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

2 papers

NM_001184.4

p.I103N

c.308T>A

Surrounding Variants

2 papers

NM_001184.4

p.I103M

c.309C>G

1 paper

NM_001184.4

p.W102*

c.306G>A

1 paper

NM_001184.4

p.I104R

c.311T>G

2 papers

NM_001184.4

p.W102*

c.305G>A

1 paper

NM_001184.4

p.W102R

c.304T>C

1 paper

NM_001184.4

p.W102R

c.304T>A

1 paper

NM_001184.4

p.T105A

c.313A>G

1 paper

NM_001184.4

p.T105M

c.314C>T

1 paper

NM_001184.4

p.E98_F99delFs

c.294_297del4

1 paper

NM_001184.4

p.F99C

c.296T>G

1 paper

NM_001184.4

p.E98V

c.293A>T

2 papers

NM_001184.4

p.E98Splc

c.293-1G>T