Bibliome.ai browser hg19
Search
About
Stats
FAQ
KIT c.1807G>C ;(p.V603L)
Variant ID: 4-55594021-G-C
NM_000222.2(
KIT
):c.1807G>C;(p.V603L)
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:
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: V603L
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Structure, domain organization, and different conformational states of stem cell factor-induced intact KIT dimers.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Opatowsky, Yarden Y; Lax, Irit I; Tomé, Francisco F; Bleichert, Franziska F; Unger, Vinzenz M VM; Schlessinger, Joseph J
Publication Date: 2014-02-04
Variant appearance in text: KIT: V603L
PubMed Link:
24449920
Variant Present in the following documents:
Main text
View BVdb publication page