KIT c.236A>T ;(p.Q79L)

Variant ID: 4-55561846-A-T

NM_000222.2(KIT):c.236A>T;(p.Q79L)

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:

The CD20 homologue MS4A4 directs trafficking of KIT toward clathrin-independent endocytosis pathways and thus regulates receptor signaling and recycling.

Molecular Biology Of The Cell
Cruse, Glenn G; Beaven, Michael A MA; Music, Stephen C SC; Bradding, Peter P; Gilfillan, Alasdair M AM; Metcalfe, Dean D DD
Publication Date: 2015-05-01

Variant appearance in text: KIT: Q79L
PubMed Link: 25717186
Variant Present in the following documents:
  • Main text
  • 1711.pdf
View BVdb publication page