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

3 papers

NM_001184.4

p.M2401I

c.7203G>C

Surrounding Variants

3 papers

NM_001184.4

p.M2401I

c.7203G>T

3 papers

NM_001184.4

p.M2401I

c.7203G>A

1 paper

NM_001184.4

p.V2399fs

c.7195_7196fs

1 paper

NM_001184.4

p.G2398Splc

c.7193-1G>A

2 papers

NM_001184.4

p.R2407C

c.7219C>T

2 papers

NM_001184.4

p.Q2408*

c.7222C>T

1 paper

NM_001184.4

p.P2412fs

c.7234_7235fs

1 paper

NM_001184.4

p.S2414L

c.7241C>T

1 paper

NM_001184.4

p.L2417S

c.7250T>C

1 paper

NM_001184.4

p.G2398Splc

c.7193-37G>T

1 paper

NM_001184.4

p.E2419K

c.7255G>A

1 paper

NM_001184.4

p.K2420fs

c.7258_7259fs