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.Q955H

c.2865G>C

Surrounding Variants

1 paper

NM_001184.4

p.Q955H

c.2865G>T

1 paper

NM_001184.4

p.C954*

c.2862C>A

1 paper

NM_001184.4

p.P953R

c.2858C>G

17 papers

NM_001184.4

p.V959M

c.2875G>A

2 papers

NM_001184.4

p.R960*

c.2878C>T

1 paper

NM_001184.4

p.R960Q

c.2879G>A

1 paper

NM_001184.4

p.P950L

c.2849C>T

1 paper

NM_001184.4

p.K961*

c.2881A>T

1 paper

NM_001184.4

p.K961T

c.2882A>C

1 paper

NM_001184.4

p.Q945_A948del4

c.2833_2843del12

1 paper

NM_001184.4

p.L949_P950insC

c.2845_2849ins3

1 paper

NM_001184.4

p.A948A

c.2844A>C