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.L590S

c.1769T>C

Surrounding Variants

1 paper

NM_001184.4

p.D589N

c.1765G>A

15 papers

NM_001184.4

p.G592G

c.1776T>A

1 paper

NM_001184.4

p.E588*

c.1762G>T

1 paper

NM_001184.4

p.M593V

c.1777A>G

1 paper

NM_001184.4

p.M593T

c.1778T>C

1 paper

NM_001184.4

p.M593I

c.1779G>T

1 paper

NM_001184.4

p.M593I

c.1779G>C

1 paper

NM_001184.4

p.M593I

c.1779G>A

1 paper

NM_001184.4

p.L594F

c.1780C>T

1 paper

NM_001184.4

p.S595*

c.1784C>G

1 paper

NM_001184.4

p.S595*

c.1784C>A

1 paper

NM_001184.4

p.H585Y

c.1753C>T