Varaico: Literature-Extracted Genetic Variants

Gene:ACTL7A
Variant:p.M269V

ACTL7A

62 papers

RefSeq Summary

The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an acti...

Pfam Domains

ACTL7A_Naa 1–65UCSCActin-like protein 7A N-terminus
Actinaa 66–435UCSCActin

Gene Aliases

HGNC Name

actin like 7A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006687.4
p.M269V
c.805A>G
Surrounding Variants
1 paper
NM_006687.4
p.G270C
c.808G>T
1 paper
NM_006687.4
p.T265T
c.795C>T
2 papers
NM_006687.4
p.A260V
c.779C>T
1 paper
NM_006687.4
p.E288del1
c.862_864delGAG
1 paper
NM_006687.4
p.D248E
c.744C>G
1 paper
NM_006687.4
p.A245A
c.735G>A
8 papers
NM_006687.4
p.A245T
c.733G>A
1 paper
NM_006687.4
p.R241W
c.721A>T
1 paper
NM_006687.4
p.T239insFs
c.715dupA
1 paper
NM_006687.4
p.V302M
c.904G>A
1 paper
NM_006687.4
p.V227insFs
c.680dupT
1 paper
NM_006687.4
p.Y225*
c.675C>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."