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

Selected Variant

4 papers

NM_032166.4

p.R675Q

c.2024G>A

NM_130384.3

p.R702Q

c.2105G>A

Surrounding Variants

1 paper

NM_130384.3

p.T700A

c.2098A>G

1 paper

NM_130384.3

p.P707S

c.2119C>T

3 papers

NM_130384.3

p.D711N

c.2131G>A

1 paper

NM_130384.3

p.V687D

c.2060T>A

1 paper

NM_130384.3

p.R718H

c.2153G>A

1 paper

NM_130384.3

p.R721Q

c.2162G>A

1 paper

NM_032166.4

p.H701Y

c.2101C>T

1 paper

NM_130384.3

p.H728delFs

c.2184delC

1 paper

NM_130384.3

p.S731A

c.2191T>G

1 paper

NM_130384.3

p.V744F

c.2230G>T

1 paper

NM_130384.3

p.V744G

c.2231T>G

2 papers

NM_130384.3

p.R760*

c.2278C>T