EGF c.2375G>A ;(p.G792D)

Variant ID: 4-110904581-G-A

NM_001963.4(EGF):c.2375G>A;(p.G792D)

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:

Identification of integrin beta subunit mutations that alter affinity for extracellular matrix ligand.

The Journal Of Biological Chemistry
Kendall, Timmy T; Mukai, Leona L; Jannuzi, Alison L AL; Bunch, Thomas A TA
Publication Date: 2011-09-02

Variant appearance in text: EGF: G792D
PubMed Link: 21757698
Variant Present in the following documents:
  • Main text
View BVdb publication page


Identification of integrin beta subunit mutations that alter heterodimer function in situ.

Molecular Biology Of The Cell
Jannuzi, Alison L AL; Bunch, Thomas A TA; West, Robert F RF; Brower, Danny L DL
Publication Date: 2004-08

Variant appearance in text: EGF: G792D
PubMed Link: 15194810
Variant Present in the following documents:
  • Main text
View BVdb publication page