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.Q713*

c.2137C>T

Surrounding Variants

3 papers

NM_001184.4

p.Q713E

c.2137C>G

1 paper

NM_001184.4

p.G712C

c.2134G>T

1 paper

NM_001184.4

p.G712R

c.2134G>C

3 papers

NM_001184.4

p.I710fs

c.2128_2129fs

2 papers

NM_001184.4

p.I710insFs

c.2128dupA

3 papers

NM_001184.4

p.I710delFs

c.2128delT

2 papers

NM_001184.4

p.I710V

c.2128A>G

4 papers

NM_001184.4

p.I710fs

c.2128_2129fs

1 paper

NM_001184.4

p.A708_S709delFs

c.2124_2125delAA

1 paper

NM_001184.4

p.S709fs

c.2125_2126fs

1 paper

NM_001184.4

p.A708S

c.2122G>T

1 paper

NM_001184.4

p.A708T

c.2122G>A