Varaico: Literature-Extracted Genetic Variants

Gene:ATRIP
Variant:p.F426_I427insFs

ATRIP

145 papers

RefSeq Summary

This gene encodes an essential component of the DNA damage checkpoint. The encoded protein binds to single-stranded DNA coated with replication protein A. The protein also interacts with the ataxia te...

Pfam Domains

ATRIP_Naa 113–189UCSCATR-interacting protein N-terminal domain
ATRIP_Caa 318–789UCSCATRIP C-terminal domain

Gene Aliases

HGNC Name

ATR interacting protein

HGNC Alias Symbols

FLJ12343; MGC20625; MGC21482; MGC26740

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_130384.3
p.F426_I427insFs
c.1278_1279insC
Surrounding Variants
1 paper
NM_130384.3
p.P421L
c.1262C>T
1 paper
NM_130384.3
p.H418R
c.1253A>G
1 paper
NM_130384.3
p.G415insFs
c.1245dupA
1 paper
NM_130384.3
p.R406K
c.1217G>A
1 paper
NM_130384.3
p.G404G
c.1212C>G
1 paper
NM_130384.3
p.S454F
c.1361C>T
1 paper
NM_130384.3
p.V456M
c.1366G>A
2 papers
NM_130384.3
p.R391Q
c.1172G>A
1 paper
NM_130384.3
p.R391L
c.1172G>T
1 paper
NM_130384.3
p.R391W
c.1171C>T
1 paper
NM_130384.3
p.P464S
c.1390C>T
1 paper
NM_130384.3
p.P464H
c.1391C>A
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