Varaico: Literature-Extracted Genetic Variants

Gene:ACTL7A
Variant:p.S49*

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.S49*
c.146C>A
Surrounding Variants
1 paper
NM_006687.4
p.S49*
c.146C>G
1 paper
NM_006687.4
p.E50delFs
c.149_150delAG
1 paper
NM_006687.4
p.E50fs
c.148_149fs
1 paper
NM_006687.4
p.S48_S49del1
c.143_145delGTT
1 paper
NM_006687.4
p.T47K
c.140C>A
1 paper
NM_006687.4
p.R45H
c.134G>A
2 papers
NM_006687.4
p.R45C
c.133C>T
1 paper
NM_006687.4
p.V42L
c.124G>C
1 paper
NM_006687.4
p.P37P
c.111G>A
1 paper
NM_006687.4
p.R34K
c.101G>A
1 paper
NM_006687.4
p.R34M
c.101G>T
1 paper
NM_006687.4
p.A71delFs
c.211delG
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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."