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.F132L

c.394T>C

Surrounding Variants

1 paper

NM_001184.4

p.F132I

c.394T>A

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.L131*

c.392T>A

1 paper

NM_001184.4

p.L130I

c.388T>A

1 paper

NM_001184.4

p.S129*

c.386C>G

1 paper

NM_001184.4

p.S129*

c.386C>A

10 papers

NM_001184.4

p.S129A

c.385T>G

1 paper

NM_001184.4

p.C128Y

c.383G>A

1 paper

NM_001184.4

p.S136delFs

c.406delT

2 papers

NM_001184.4

p.I127N

c.380T>A

1 paper

NM_001184.4

p.K137E

c.409A>G