Varaico: Literature-Extracted Genetic Variants

Gene:ACTRT1

ACTRT1

80 papers

RefSeq Summary

This gene encodes a protein related to the cytoskeletal protein beta-actin. This protein is a major component of the calyx in the perinuclear theca of mammalian sperm heads, and it therefore likely fu...

Pfam Domains

Actinaa 6–376UCSCActin

Gene Aliases

HGNC Name

actin related protein T1

HGNC Alias Symbols

AIP1; KIAA0705; ARIP1; Arp-T1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 76 variants
6 papers
NM_138289.4
p.M183insFs
c.547_548insA
4 papers
NM_138289.4
p.M183fs
c.547_548fs
2 papers
NM_138289.4
p.R32H
c.95G>A
2 papers
NM_138289.4
p.K54M
c.161A>T
2 papers
NM_138289.4
p.L107R
c.320T>G
2 papers
NM_138289.4
p.M183fs
c.547_548fs
2 papers
NM_138289.4
p.Y221C
c.662A>G
2 papers
NM_138289.4
p.M278fs
c.832_833fs
2 papers
NM_138289.4
p.W357L
c.1070G>T
1 paper
NM_138289.4
p.A6E
c.17C>A
1 paper
NM_138289.4
p.F14fs
c.40_41fs
1 paper
NM_138289.4
p.F14delFs
c.42delA
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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."