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_130384.3

p.L345delFs

c.1033delC

Surrounding Variants

1 paper

NM_130384.3

p.T343fs

c.1027_1028fs

1 paper

NM_130384.3

p.T343I

c.1028C>T

1 paper

NM_130384.3

p.L345fs

c.1033_1034fs

1 paper

NM_130384.3

p.S339T

c.1015T>A

1 paper

NM_130384.3

p.S335N

c.1004G>A

1 paper

NM_130384.3

p.L333P

c.998T>C

1 paper

NM_130384.3

p.L327fs

c.979_980fs

1 paper

NM_130384.3

p.L316R

c.947T>G

1 paper

NM_130384.3

p.L316V

c.946C>G

1 paper

NM_130384.3

p.L315V

c.943C>G

1 paper

NM_130384.3

p.S310F

c.929C>T

1 paper

NM_001271023.2

p.G263R

c.787G>A