EGF c.1051C>T ;(p.R351W)

Variant ID: 4-110880578-C-T

NM_001963.4(EGF):c.1051C>T;(p.R351W)

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:

Differential tolerance of 'pseudo-pathogenic' tryptophan residues in calcium-binding EGF domains of short fibulin proteins.

Experimental Eye Research
Nguyen, Annie A; Hulleman, John D JD
Publication Date: 2015-01

Variant appearance in text: EGF: R351W
PubMed Link: 25481286
Variant Present in the following documents:
  • Main text
View BVdb publication page