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.T729A

c.2185A>G

Surrounding Variants

1 paper

NM_001184.4

p.E730*

c.2188G>T

1 paper

NM_001184.4

p.E730G

c.2189A>G

1 paper

NM_001184.4

p.E730E

c.2190A>G

1 paper

NM_001184.4

p.S727A

c.2179T>G

1 paper

NM_001184.4

p.P731S

c.2191C>T

1 paper

NM_001184.4

p.T725I

c.2174C>T

1 paper

NM_001184.4

p.E734Q

c.2200G>C

2 papers

NM_001184.4

p.E734K

c.2200G>A

1 paper

NM_001184.4

p.F722insFs

c.2165_2166insT

1 paper

NM_001184.4

p.G736*

c.2206G>T

1 paper

NM_001184.4

p.G736R

c.2206G>C

1 paper

NM_001184.4

p.G736R

c.2206G>A