HR c.1075_1076delinsGT ;(p.S359V)

Variant ID: 8-21984879-CT-AC

NM_005144.4(HR):c.1075_1076delinsGT;(p.S359V)

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:

Stepwise Reversion of Multiply Mutated Recombinant Antitrypsin Reveals a Selective Inhibitor of Coagulation Factor XIa as Active as the M358R Variant.

Frontiers In Cardiovascular Medicine
Hamada, Mostafa M; Bhakta, Varsha V; Andres, Sara N SN; Sheffield, William P WP
Publication Date: 2021

Variant appearance in text: HR: S359V
PubMed Link: 33816577
Variant Present in the following documents:
  • fcvm-08-647405.pdf
View BVdb publication page