Varaico: Literature-Extracted Genetic Variants

Gene:ACTL7A
Variant:p.Y209C

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.Y209C
c.626A>G
Surrounding Variants
1 paper
NM_006687.4
p.M206delFs
c.616delA
9 papers
NM_006687.4
p.G214S
c.640G>A
1 paper
NM_006687.4
p.S202S
c.606G>A
1 paper
NM_006687.4
p.V216A
c.647T>C
1 paper
NM_006687.4
p.Q201_S202insFs
c.603_604insG
1 paper
NM_006687.4
p.V219V
c.657G>A
1 paper
NM_006687.4
p.G222D
c.665G>A
1 paper
NM_006687.4
p.V223M
c.667G>A
1 paper
NM_006687.4
p.A195delFs
c.585delA
1 paper
NM_006687.4
p.Y225*
c.675C>A
1 paper
NM_006687.4
p.V227insFs
c.680dupT
1 paper
NM_006687.4
p.L187M
c.559C>A
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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."