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.E113*

c.337G>T

Surrounding Variants

2 papers

NM_130384.3

p.E113K

c.337G>A

1 paper

NM_130384.3

p.E115A

c.344A>C

1 paper

NM_130384.3

p.Q120H

c.360A>T

1 paper

NM_130384.3

p.L124H

c.371T>A

1 paper

NM_130384.3

p.K101R

c.302A>G

1 paper

NM_130384.3

p.K101Q

c.301A>C

1 paper

NM_130384.3

p.K125R

c.374A>G

1 paper

NM_130384.3

p.K96R

c.287A>G

1 paper

NM_130384.3

p.K96Q

c.286A>C

1 paper

NM_130384.3

p.N97insFs

c.290_291insA

1 paper

NM_130384.3

p.L91insFs

c.271_272insTA

1 paper

NM_130384.3

p.D84G

c.251A>G