Varaico: Literature-Extracted Genetic Variants

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

1–12 of 169 variants

5 papers

NM_130384.3

p.T384_G385delFs

c.1152_1155del4

4 papers

NM_130384.3

p.L345delFs

c.1033delC

4 papers

NM_130384.3

p.G385fs

c.1153_1154fs

3 papers

NM_130384.3

p.R702Q

c.2105G>A

3 papers

NM_130384.3

p.D711N

c.2131G>A

2 papers

NM_130384.3

p.A2V

c.5C>T

2 papers

NM_130384.3

p.E113K

c.337G>A

2 papers

NM_130384.3

p.P235A

c.703C>G

2 papers

NM_130384.3

p.S239A

c.715T>G

2 papers

NM_130384.3

p.P240A

c.718C>G

2 papers

NM_130384.3

p.S373A

c.1117T>G

2 papers

NM_130384.3

p.R391Q

c.1172G>A