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.Q1732_I1733Splc

c.5197-8A>T

Surrounding Variants

2 papers

NM_001184.4

p.I1733S

c.5198T>G

1 paper

NM_001184.4

p.Y1736*

c.5208T>G

16 papers

NM_001184.4

p.Y1736Y

c.5208T>C

1 paper

NM_001184.4

p.Y1736*

c.5208T>A

1 paper

NM_001184.4

p.G1738insFs

c.5212_5213ins5

1 paper

NM_001184.4

p.V1740insFs

c.5219_5220ins5

1 paper

NM_001184.4

p.L1746I

c.5236C>A

2 papers

NM_001184.4

p.G1747D

c.5240G>A

2 papers

NM_001184.4

p.S1750F

c.5249C>T

1 paper

NM_001184.4

p.T1751A

c.5251A>G

5 papers

NM_001184.4

p.I1753V

c.5257A>G

2 papers

NM_001184.4

p.H1737_V1752del0

c.5209_5256del48