APC c.1004T>A ;(p.L335Q)

Variant ID: 5-112154733-T-A

NM_000038.5(APC):c.1004T>A;(p.L335Q)

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 role of P4-P3' residues flanking Arg336 in facilitating activated protein C-catalyzed cleavage and inactivation of factor VIIIa.

Thrombosis Research
DeAngelis, Jennifer P JP; Varfaj, Fatbardha F; Wakabayashi, Hironao H; Fay, Philip J PJ
Publication Date: 2011-11

Variant appearance in text: APC: Leu335Gln
PubMed Link: 21470668
Variant Present in the following documents:
  • Main text
View BVdb publication page