Bibliome.ai browser hg19
Search
About
Stats
FAQ
KIT c.2428G>C ;(p.D810H)
Variant ID: 4-55599302-G-C
NM_000222.2(
KIT
):c.2428G>C;(p.D810H)
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:
Recurrent KRAS, KIT and SF3B1 mutations in melanoma of the female genital tract.
Bmc Cancer
Cai, Yuan-Jun YJ; Ke, Long-Feng LF; Zhang, Wen-Wen WW; Lu, Jian-Ping JP; Chen, Yan-Ping YP
Publication Date: 2021-06-08
Variant appearance in text: KIT: D810H
PubMed Link:
34102999
Variant Present in the following documents:
Main text
12885_2021_Article_8427.pdf
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: D810H
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page