Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.K375E

ACTC1

400 papers

RefSeq Summary

Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stran...

Pfam Domains

Actinaa 4–377UCSCActin

Gene Aliases

HGNC Name

actin alpha cardiac muscle 1

HGNC Alias Symbol

CMD1R

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005159.5
p.K375E
c.1123A>G
Surrounding Variants
1 paper
NM_005159.5
p.K375Q
c.1123A>C
7 papers
NM_005159.5
p.R374H
c.1121G>A
1 paper
NM_005159.5
p.R374C
c.1120C>T
5 papers
NM_005159.5
p.R374S
c.1120C>A
1 paper
NM_005159.5
p.C376Y
c.1127G>A
1 paper
NM_005159.5
p.V372F
c.1114G>T
4 papers
NM_005159.5
p.I371T
c.1112T>C
1 paper
NM_005159.5
p.A367insFs
c.1101dupA
1 paper
NM_005159.5
p.A367S
c.1099G>T
3 papers
NM_005159.5
p.A367T
c.1099G>A
1 paper
NM_005159.5
p.E366K
c.1096G>A
1 paper
NM_005159.5
p.D365N
c.1093G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."