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.A111fs

c.331_332fs

Surrounding Variants

1 paper

NM_001184.4

p.A111E

c.332C>A

2 papers

NM_001184.4

p.A112V

c.335C>T

1 paper

NM_001184.4

p.I110T

c.329T>C

1 paper

NM_001184.4

p.I110N

c.329T>A

1 paper

NM_001184.4

p.T113A

c.337A>G

1 paper

NM_001184.4

p.R109L

c.326G>T

1 paper

NM_001184.4

p.R109Q

c.326G>A

5 papers

NM_001184.4

p.P114S

c.340C>T

14 papers

NM_001184.4

p.R109W

c.325C>T

1 paper

NM_001184.4

p.C116S

c.346T>A

1 paper

NM_001184.4

p.C116F

c.347G>T

3 papers

NM_001184.4

p.C116S

c.347G>C