rs121913024
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the XPD gene leading to xeroderma pigmentosum symptoms.
|
9101292 |
1997 |
rs121913020
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.
|
7825573 |
1995 |
rs121913020
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.
|
7585650 |
1995 |
rs121913024
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.
|
7825573 |
1995 |
rs121913024
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.
|
7585650 |
1995 |
rs121913020
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.
|
7849702 |
1994 |
rs121913024
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.
|
7849702 |
1994 |
rs121913020
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121913024
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121913016
|
|
|
0.720 |
GeneticVariation |
UNIPROT |
Selective regulation of vitamin D receptor-responsive genes by TFIIH.
|
15494306 |
2004 |
rs121913016
|
|
|
0.720 |
GeneticVariation |
UNIPROT |
Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.
|
11709541 |
2001 |
rs121913016
|
|
|
0.720 |
GeneticVariation |
UNIPROT |
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.
|
10447254 |
1999 |
rs121913016
|
|
|
0.720 |
GeneticVariation |
UNIPROT |
Mutations in the XPD gene leading to xeroderma pigmentosum symptoms.
|
9101292 |
1997 |
rs121913016
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Mutations of Arg658 to either His or Cys correlate with TTD cell strains with intermediate UV-sensitivity, mutation of Arg722 to Trp correlates with highly UV-sensitive TTD cell strains, and mutation of Arg683 to Trp correlates with XP-D. Alleles with mutation of Arg616 to Pro or with the combined mutation of Leu461 to Val and deletion of 716-730 are found in both XP-D and TTD cell strains.
|
8571952 |
1996 |
rs121913016
|
|
|
0.720 |
GeneticVariation |
UNIPROT |
Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.
|
7585650 |
1995 |
rs121913016
|
|
|
0.720 |
GeneticVariation |
UNIPROT |
Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.
|
7825573 |
1995 |
rs121913016
|
|
|
0.720 |
GeneticVariation |
BEFREE |
In cell line GM436 a C-->G transversion was found at nucleotide position 1411 in the XPD (ERCC2) cDNA, a change expected to result in a Leu461Val substitution.
|
7849702 |
1994 |
rs121913016
|
|
|
0.720 |
GeneticVariation |
UNIPROT |
In cell line GM436 a C-->G transversion was found at nucleotide position 1411 in the XPD (ERCC2) cDNA, a change expected to result in a Leu461Val substitution.
|
7849702 |
1994 |
rs121913019
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We have previously suggested that these differences in clinical manifestations in XP-D patients are attributed partly to a predominant mutation in ERCC2, and the allele frequency of S541R is highest in Japan.
|
26993158 |
2016 |
rs1360631927
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Two other cases of severe XP-D/CS (XP group D/CS), XP1JI (p.[G47R];[0]) and XPCS1PV (p.[R666W];[0]), died at ages <2 years.
|
25716912 |
2015 |
rs752510317
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Two other cases of severe XP-D/CS (XP group D/CS), XP1JI (p.[G47R];[0]) and XPCS1PV (p.[R666W];[0]), died at ages <2 years.
|
25716912 |
2015 |
rs121913019
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Selective regulation of vitamin D receptor-responsive genes by TFIIH.
|
15494306 |
2004 |
rs1360631927
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Selective regulation of vitamin D receptor-responsive genes by TFIIH.
|
15494306 |
2004 |
rs121913019
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.
|
11709541 |
2001 |
rs1360631927
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.
|
11709541 |
2001 |