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

1 paper

NM_130384.3

p.S68L

c.203C>T

Surrounding Variants

1 paper

NM_130384.3

p.S68A

c.202T>G

1 paper

NM_130384.3

p.A67T

c.199G>A

1 paper

NM_130384.3

p.Q73*

c.217C>T

1 paper

NM_130384.3

p.A76A

c.228C>T

1 paper

NM_130384.3

p.R79L

c.236G>T

1 paper

NM_130384.3

p.G50delFs

c.150delC

1 paper

NM_130384.3

p.G50_A51delFs

c.150_151delCG

1 paper

NM_130384.3

p.A40V

c.119C>T

1 paper

NM_130384.3

p.F37F

c.111C>T

1 paper

NM_130384.3

p.K32R

c.95A>G

1 paper

NM_130384.3

p.K32Q

c.94A>C

1 paper

NM_130384.3

p.P30L

c.89C>T