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.F222L

c.664T>C

Surrounding Variants

2 papers

NM_001184.4

p.F222fs

c.664_665fs

1 paper

NM_001184.4

p.F222S

c.665T>C

1 paper

NM_001184.4

p.F222fs

c.664_665fs

1 paper

NM_001184.4

p.F222L

c.666T>G

1 paper

NM_001184.4

p.F221S

c.662T>C

1 paper

NM_001184.4

p.F222L

c.666T>A

1 paper

NM_001184.4

p.V220del1

c.658_660delCAC

1 paper

NM_001184.4

p.F222insFs

c.665_666dupTT

3 papers

NM_001184.4

p.F222delFs

c.666delA

1 paper

NM_001184.4

p.R223fs

c.667_668fs

1 paper

NM_001184.4

p.I219fs

c.655_656fs

1 paper

NM_001184.4

p.I219F

c.655A>T