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.Q151*

c.451C>T

Surrounding Variants

1 paper

NM_001184.4

p.Q151K

c.451C>A

1 paper

NM_001184.4

p.L150F

c.450A>T

1 paper

NM_001184.4

p.Q151R

c.452A>G

1 paper

NM_001184.4

p.L150F

c.450A>C

1 paper

NM_001184.4

p.Q151delFs

c.451delG

1 paper

NM_001184.4

p.L150delins

c.448_449delinsCC

1 paper

NM_001184.4

p.Q151fs

c.451_452fs

1 paper

NM_001184.4

p.K147_F153insFs

c.439_457dup19

1 paper

NM_001184.4

p.F153fs

c.457_458fs

2 papers

NM_001184.4

p.E148*

c.442G>T

1 paper

NM_001184.4

p.E154Q

c.460G>C

1 paper

NM_001184.4

p.E154K

c.460G>A