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

19 papers

NM_001184.4

p.V316I

c.946G>A

Surrounding Variants

1 paper

NM_001184.4

p.P315insFs

c.945dupT

1 paper

NM_001184.4

p.V316fs

c.946_947fs

1 paper

NM_001184.4

p.V316V

c.948C>T

1 paper

NM_001184.4

p.P315L

c.944C>T

2 papers

NM_001184.4

p.V316fs

c.946_947fs

2 papers

NM_001184.4

p.P315H

c.944C>A

1 paper

NM_001184.4

p.Y317insFs

c.949_950insC

1 paper

NM_001184.4

p.Y317F

c.950A>T

1 paper

NM_001184.4

p.Y317C

c.950A>G

1 paper

NM_001184.4

p.P315_V316delFs

c.945_948del4

1 paper

NM_001184.4

p.Y317*

c.951T>G

1 paper

NM_001184.4

p.Y317*

c.951T>A