KIT c.850G>C ;(p.D284H)

Variant ID: 4-55569983-G-C

NM_000222.2(KIT):c.850G>C;(p.D284H)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Prediction of the damage-associated non-synonymous single nucleotide polymorphisms in the human MC1R gene.

Plos One
Hepp, Diego D; Gonçalves, Gislene Lopes GL; de Freitas, Thales Renato Ochotorena TR
Publication Date: 2015

Variant appearance in text: KIT: D284H
PubMed Link: 25794181
Variant Present in the following documents:
  • Main text
  • pone.0121812.pdf
View BVdb publication page