DisGeNET - a database of gene-disease associations

Non-Small Cell Lung Carcinoma, C0007131

Variant: rs121913369 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121913369

BRAF

0.700

CausalMutation

CLINVAR

The intermediate-activity (L597V)BRAF mutant acts as an epistatic modifier of oncogenic RAS by enhancing signaling through the RAF/MEK/ERK pathway.

22892241

2012

dbSNP:

rs121913369

BRAF

0.700

CausalMutation

CLINVAR

A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.

23093928

2012

dbSNP:

rs121913369

BRAF

0.700

CausalMutation

CLINVAR

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.

19206169

2009

dbSNP:

rs121913369

BRAF

0.700

CausalMutation

CLINVAR

Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF.

15035987

2004