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.K137E

c.409A>G

Surrounding Variants

1 paper

NM_001184.4

p.K137R

c.410A>G

1 paper

NM_001184.4

p.S136delFs

c.406delT

1 paper

NM_001184.4

p.K135_S136del2

c.403_407del6

1 paper

NM_001184.4

p.S138R

c.412A>C

1 paper

NM_001184.4

p.S138R

c.414T>G

1 paper

NM_001184.4

p.S138R

c.414T>A

2 papers

NM_001184.4

p.P139S

c.415C>T

1 paper

NM_001184.4

p.A140V

c.419C>T

2 papers

NM_001184.4

p.I141F

c.421A>T

1 paper

NM_001184.4

p.F132L

c.396T>G

1 paper

NM_001184.4

p.F132L

c.396T>A

1 paper

NM_001184.4

p.F142L

c.424T>C