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.R623M

c.1868G>T

Surrounding Variants

1 paper

NM_001184.4

p.I624fs

c.1870_1871fs

1 paper

NM_001184.4

p.R623delFs

c.1869delC

1 paper

NM_001184.4

p.S621R

c.1863C>G

1 paper

NM_001184.4

p.S621R

c.1863C>A

1 paper

NM_001184.4

p.S621R

c.1861A>C

1 paper

NM_001184.4

p.T619I

c.1856C>T

1 paper

NM_001184.4

p.T619delFs

c.1855delT

2 papers

NM_001184.4

p.Y628N

c.1882T>A

1 paper

NM_001184.4

p.L617R

c.1850T>G

1 paper

NM_001184.4

p.L617F

c.1849C>T

1 paper

NM_001184.4

p.N616S

c.1847A>G

4 papers

NM_001184.4

p.S629Splc

c.1885+7G>A