RB1 c.990T>A ;(p.D330E)

Variant ID: 13-48941680-T-A

NM_000321.2(RB1):c.990T>A;(p.D330E)

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 roles of intrinsic disorder-based liquid-liquid phase transitions in the "Dr. Jekyll-Mr. Hyde" behavior of proteins involved in amyotrophic lateral sclerosis and frontotemporal lobar degeneration.

Autophagy
Uversky, Vladimir N VN
Publication Date: 2017

Variant appearance in text: RB1: D330E
PubMed Link: 28980860
Variant Present in the following documents:
  • Main text
View BVdb publication page