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.M1136T

c.3407T>C

Surrounding Variants

1 paper

NM_001184.4

p.M1136_Q1137del1

c.3407_3409delGCA

1 paper

NM_001184.4

p.N1135fs

c.3403_3404fs

2 papers

NM_001184.4

p.F1134delFs

c.3402delA

2 papers

NM_001184.4

p.F1134fs

c.3400_3401fs

1 paper

NM_001184.4

p.F1134S

c.3401T>C

3 papers

NM_001184.4

p.F1134fs

c.3400_3401fs

1 paper

NM_001184.4

p.L1139delFs

c.3415delG

1 paper

NM_001184.4

p.F1133V

c.3397T>G

1 paper

NM_001184.4

p.L1139fs

c.3415_3416fs

1 paper

NM_001184.4

p.S1141A

c.3421T>G

16 papers

NM_001184.4

p.S1142G

c.3424A>G

1 paper

NM_001184.4

p.S1142T

c.3425G>C