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.N579fs

c.1735_1736fs

Surrounding Variants

1 paper

NM_001184.4

p.N579delFs

c.1736delT

1 paper

NM_001184.4

p.V578I

c.1732G>A

1 paper

NM_001184.4

p.S580G

c.1738A>G

1 paper

NM_001184.4

p.F582L

c.1744T>C

1 paper

NM_001184.4

p.F582L

c.1746T>G

1 paper

NM_001184.4

p.F582L

c.1746T>A

1 paper

NM_001184.4

p.E583K

c.1747G>A

1 paper

NM_001184.4

p.H585Y

c.1753C>T

1 paper

NM_001184.4

p.H585D

c.1753C>G

1 paper

NM_001184.4

p.E588*

c.1762G>T

1 paper

NM_001184.4

p.D589N

c.1765G>A

1 paper

NM_001184.4

p.L590S

c.1769T>C