Varaico: Literature-Extracted Genetic Variants

Gene:ACTL7B

ACTL7B

44 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

Actinaa 46–415UCSCActin

Gene Aliases

HGNC Name

actin like 7B

HGNC Alias Symbol

Tact1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 39 variants
2 papers
NM_006686.4
p.M1T
c.2T>C
1 paper
NM_006686.4
p.M1I
c.3G>A
1 paper
NM_006686.4
p.T12M
c.35C>T
1 paper
NM_006686.4
p.K48N
c.144G>T
1 paper
NM_006686.4
p.K48N
c.144G>C
1 paper
NM_006686.4
p.G64S
c.190G>A
1 paper
NM_006686.4
p.P69Q
c.206C>A
1 paper
NM_006686.4
p.P69P
c.207G>T
1 paper
NM_006686.4
p.T72S
c.214A>T
1 paper
NM_006686.4
p.T72S
c.215C>G
1 paper
NM_006686.4
p.A86delFs
c.258delC
1 paper
NM_006686.4
p.G118R
c.352G>C
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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."