EGF c.347A>G ;(p.K116R)

Variant ID: 4-110864429-A-G

NM_001963.4(EGF):c.347A>G;(p.K116R)

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:

Site-specific monoubiquitination downregulates Rab5 by disrupting effector binding and guanine nucleotide conversion.

Elife
Shin, Donghyuk D; Na, Wooju W; Lee, Ji-Hyung JH; Kim, Gyuhee G; Baek, Jiseok J; Park, Seok Hee SH; Choi, Cheol Yong CY; Lee, Sangho S
Publication Date: 2017-10-02

Variant appearance in text: EGF: K116R
PubMed Link: 28968219
Variant Present in the following documents:
  • Main text
  • elife-29154.pdf
View BVdb publication page