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.M335I

c.1005G>A

Surrounding Variants

3 papers

NM_001184.4

p.R336W

c.1006C>T

1 paper

NM_001184.4

p.R336Q

c.1007G>A

1 paper

NM_001184.4

p.M335Fs

c.1003delinsGAFs

1 paper

NM_001184.4

p.L337F

c.1009C>T

1 paper

NM_001184.4

p.L337V

c.1009C>G

1 paper

NM_001184.4

p.V333A

c.998T>C

1 paper

NM_001184.4

p.G332S

c.994G>A

2 papers

NM_001184.4

p.D331D

c.993C>T

2 papers

NM_001184.4

p.D340Y

c.1018G>T

2 papers

NM_001184.4

p.D340H

c.1018G>C

1 paper

NM_001184.4

p.D340N

c.1018G>A

2 papers

NM_001184.4

p.S339_D340delins

c.1017_1018delinsCT