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.H966Q

c.2898C>A

Surrounding Variants

1 paper

NM_001184.4

p.H966Q

c.2898C>G

1 paper

NM_001184.4

p.Q967*

c.2899C>T

1 paper

NM_001184.4

p.Q967H

c.2901G>T

1 paper

NM_001184.4

p.Q967H

c.2901G>C

1 paper

NM_001184.4

p.R968*

c.2902A>T

1 paper

NM_001184.4

p.E969*

c.2905G>T

1 paper

NM_001184.4

p.Q967_R968delFs

c.2900_2903del4

1 paper

NM_001184.4

p.A971delFs

c.2911delC

2 papers

NM_001184.4

p.A971delins

c.2911_2912delinsAA

1 paper

NM_001184.4

p.A971fs

c.2911_2912fs

1 paper

NM_001184.4

p.K961T

c.2882A>C

1 paper

NM_001184.4

p.K961*

c.2881A>T