FRK c.209A>T ;(p.Q70L)

Variant ID: 6-116381266-T-A

NM_002031.2(FRK):c.209A>T;(p.Q70L)

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:

ALS-associated mutant FUS inhibits macroautophagy which is restored by overexpression of Rab1.

Cell Death Discovery
Soo, K Y KY; Sultana, J J; King, A E AE; Atkinson, Rak R; Warraich, S T ST; Sundaramoorthy, V V; Blair, I I; Farg, M A MA; Atkin, J D JD
Publication Date: 2015

Variant appearance in text: RAK: Q70L
PubMed Link: 27551461
Variant Present in the following documents:
  • Main text
  • cddiscovery201530.pdf
View BVdb publication page