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.L513P

c.1538T>C

Surrounding Variants

1 paper

NM_130384.3

p.L496*

c.1487T>A

1 paper

NM_130384.3

p.L496*

c.1487T>G

1 paper

NM_130384.3

p.V493delFs

c.1477delG

1 paper

NM_130384.3

p.K540N

c.1620G>C

1 paper

NM_130384.3

p.K540N

c.1620G>T

1 paper

NM_130384.3

p.L545P

c.1634T>C

1 paper

NM_130384.3

p.A551G

c.1652C>G

2 papers

NM_130384.3

p.E472D

c.1416A>C

2 papers

NM_130384.3

p.E472D

c.1416A>T

1 paper

NM_130384.3

p.P464H

c.1391C>A

2 papers

NM_130384.3

p.T562I

c.1685C>T

1 paper

NM_130384.3

p.P464S

c.1390C>T