Varaico: Literature-Extracted Genetic Variants

ATR

1,915 papers

RefSeq Summary

The protein encoded by this gene is a serine/threonine kinase and DNA damage sensor, activating cell cycle checkpoint signaling upon DNA stress. The encoded protein can phosphorylate and activate seve...

Pfam Domains

N-HEAT_ATRaa 5–551UCSCSerine/threonine-protein kinase ATR, N-HEAT region

UMEaa 1122–1223UCSCUME (NUC010) domain

M-HEAT_ATRaa 1474–1709UCSCSerine/threonine-protein kinase ATR, M-HEAT region

FATaa 1771–2092UCSCFAT domain

HEAT_ATRaa 2121–2219UCSCSerine/threonine-protein kinase ATR-like, HEAT repeats

PI3_PI4_kinaseaa 2322–2567UCSCPhosphatidylinositol 3- and 4-kinase

Gene Aliases

HGNC Name

ATR checkpoint kinase

HGNC Alias Symbols

FRP1; SCKL; SCKL1; MEC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001184.4

p.M197fs

c.589_590fs

Surrounding Variants

2 papers

NM_001184.4

p.M197I

c.591G>T

2 papers

NM_001184.4

p.M197I

c.591G>C

2 papers

NM_001184.4

p.M197I

c.591G>A

1 paper

NM_001184.4

p.M197Fs

c.589_591delinsCFs

2 papers

NM_001184.4

p.M197T

c.590T>C

1 paper

NM_001184.4

p.S198I

c.593G>T

1 paper

NM_001184.4

p.M199I

c.597G>T

1 paper

NM_001184.4

p.M199I

c.597G>C

1 paper

NM_001184.4

p.M199I

c.597G>A

1 paper

NM_001184.4

p.Q195*

c.583C>T

1 paper

NM_001184.4

p.P193S

c.577C>T

1 paper

NM_001184.4

p.L202fs

c.604_605fs