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

40 papers

NM_001184.4

p.I774insFs

c.2320dupA

Surrounding Variants

1 paper

NM_001184.4

p.I774insFs

c.2320_2321ins7

1 paper

NM_001184.4

p.I774insFs

c.2320_2321ins8

27 papers

NM_001184.4

p.I774delFs

c.2320delT

4 papers

NM_001184.4

p.K771delFs

c.2311_2312delTT

44 papers

NM_001184.4

p.I774fs

c.2320_2321fs

32 papers

NM_001184.4

p.I774fs

c.2320_2321fs

1 paper

NM_001184.4

p.P775S

c.2323C>T

2 papers

NM_001184.4

p.K773fs

c.2317_2318fs

1 paper

NM_001184.4

p.P775insFs

c.2324_2325ins8

1 paper

NM_001184.4

p.K773fs

c.2317_2318fs

1 paper

NM_001184.4

p.S776N

c.2327G>A

2 papers

NM_001184.4

p.K771fs

c.2311_2312fs