SCN5A c.1331A>C ;(p.E444A)

Variant ID: 3-38647449-T-G

NM_000335.4(SCN5A):c.1331A>C;(p.E444A)

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:

Structural insights into G domain dimerization and pathogenic mutation of OPA1.

The Journal Of Cell Biology
Yu, Caiting C; Zhao, Jinghua J; Yan, Liming L; Qi, Yuanbo Y; Guo, Xiangyang X; Lou, Zhiyong Z; Hu, Junjie J; Rao, Zihe Z
Publication Date: 2020-07-06

Variant appearance in text: HB2: E444A
PubMed Link: 32379273
Variant Present in the following documents:
  • Main text
  • JCB_201907098.pdf
View BVdb publication page