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.C347*

c.1041C>A

Surrounding Variants

1 paper

NM_001184.4

p.H348N

c.1042C>A

1 paper

NM_001184.4

p.C347_H348delins

c.1041_1044delinsT

1 paper

NM_001184.4

p.L350P

c.1049T>C

1 paper

NM_001184.4

p.L350L

c.1050G>A

1 paper

NM_001184.4

p.A344V

c.1031C>T

1 paper

NM_001184.4

p.A344E

c.1031C>A

1 paper

NM_001184.4

p.A344T

c.1030G>A

1 paper

NM_001184.4

p.K343*

c.1027A>T

1 paper

NM_001184.4

p.L342Q

c.1025T>A

2 papers

NM_001184.4

p.L342L

c.1024C>T

1 paper

NM_001184.4

p.L341F

c.1023G>T

1 paper

NM_001184.4

p.L341F

c.1023G>C