KIT c.1745G>T ;(p.W582L)

KIT c.1745G>T ;(p.W582L)

Variant ID: 4-55593679-G-T

NM_000222.2(KIT):c.1745G>T;(p.W582L)

This variant was identified in 2 publications

View GRCh38 version.

Variant-Specific Resource Links:

gnomAD v2.1.1

Mutalizer Name Checker

Google

UCSC Genome Browser

ClinVar

dbSNP

Publications:

KIT and Melanoma: Biological Insights and Clinical Implications.

Yonsei Medical Journal

Pham, Duc Daniel M DDM; Guhan, Samantha S; Tsao, Hensin H

Publication Date: 2020-07

Variant appearance in text: KIT: W582L

PubMed Link: 32608199

Variant Present in the following documents:

Main text

View BVdb publication page

Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: KIT: W582L

PubMed Link: 31819097

Variant Present in the following documents:

41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page