EGF c.2191_2193delinsATC ;(p.L731I)

Variant ID: 4-110901265-CTG-ATC

NM_001963.4(EGF):c.2191_2193delinsATC;(p.L731I)

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 crystal structure of the α-neurexin-1 extracellular region reveals a hinge point for mediating synaptic adhesion and function.

Structure (London, England : 1993)
Miller, Meghan T MT; Mileni, Mauro M; Comoletti, Davide D; Stevens, Raymond C RC; Harel, Michal M; Taylor, Palmer P
Publication Date: 2011-06-08

Variant appearance in text: EGF: L731I
PubMed Link: 21620717
Variant Present in the following documents:
  • Main text
View BVdb publication page