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

48 papers

NM_001184.4

p.M211T

c.632T>C

Surrounding Variants

1 paper

NM_001184.4

p.M211I

c.633G>T

1 paper

NM_001184.4

p.M211I

c.633G>C

1 paper

NM_001184.4

p.M211I

c.633G>A

1 paper

NM_001184.4

p.M211V

c.631A>G

1 paper

NM_001184.4

p.V212L

c.634G>C

1 paper

NM_001184.4

p.V212I

c.634G>A

3 papers

NM_001184.4

p.L213V

c.637C>G

1 paper

NM_001184.4

p.V212insFs

c.636dupT

1 paper

NM_001184.4

p.L213_T214insT

c.637_641ins3

1 paper

NM_001184.4

p.L213insFs

c.638_639insA

1 paper

NM_001184.4

p.T214insFs

c.641_642insC

2 papers

NM_001184.4

p.R215C

c.643C>T