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EGF c.346_348delinsTGT ;(p.K116C)
Variant ID: 4-110864428-AAA-TGT
NM_001963.4(
EGF
):c.346_348delinsTGT;(p.K116C)
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: K116C
PubMed Link:
28968219
Variant Present in the following documents:
Main text
elife-29154.pdf
View BVdb publication page