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.D701E

c.2103C>A

Surrounding Variants

1 paper

NM_001184.4

p.D701E

c.2103C>G

2 papers

NM_001184.4

p.D701G

c.2102A>G

1 paper

NM_001184.4

p.S700C

c.2099C>G

2 papers

NM_001184.4

p.K704*

c.2110A>T

1 paper

NM_001184.4

p.D699Y

c.2095G>T

1 paper

NM_001184.4

p.K704N

c.2112G>T

1 paper

NM_001184.4

p.K704N

c.2112G>C

1 paper

NM_001184.4

p.K697N

c.2091A>T

1 paper

NM_001184.4

p.K697N

c.2091A>C

1 paper

NM_001184.4

p.E706*

c.2116G>T

4 papers

NM_001184.4

p.F707L

c.2119T>C

1 paper

NM_001184.4

p.V696I

c.2086G>A