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

1–12 of 2371 variants

48 papers

NM_001184.4

p.M211T

c.632T>C

44 papers

NM_001184.4

p.I774fs

c.2320_2321fs

40 papers

NM_001184.4

p.I774insFs

c.2320dupA

32 papers

NM_001184.4

p.I774fs

c.2320_2321fs

27 papers

NM_001184.4

p.I774delFs

c.2320delT

26 papers

NM_001184.4

p.R2425Q

c.7274G>A

19 papers

NM_001184.4

p.V316I

c.946G>A

17 papers

NM_001184.4

p.V959M

c.2875G>A

16 papers

NM_001184.4

p.S1142G

c.3424A>G

16 papers

NM_001184.4

p.Y1736Y

c.5208T>C

15 papers

NM_001184.4

p.G592G

c.1776T>A

14 papers

NM_001184.4

p.R109W

c.325C>T