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

3 papers

NM_001184.4

p.Q181*

c.541C>T

Surrounding Variants

1 paper

NM_001184.4

p.S180R

c.540T>G

2 papers

NM_001184.4

p.S180R

c.540T>A

1 paper

NM_001184.4

p.Q181L

c.542A>T

1 paper

NM_001184.4

p.S180R

c.538A>C

1 paper

NM_001184.4

p.L179fs

c.535_536fs

1 paper

NM_001184.4

p.R177_L182del0

c.529_546del18

1 paper

NM_001184.4

p.D183V

c.548A>T

1 paper

NM_001184.4

p.D183E

c.549T>G

1 paper

NM_001184.4

p.D183E

c.549T>A

1 paper

NM_001184.4

p.F178Y

c.533T>A

6 papers

NM_001184.4

p.R177Q

c.530G>A

1 paper

NM_001184.4

p.P172_R177delFs

c.516_529del14