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.P2433L

c.7298C>T

Surrounding Variants

5 papers

NM_001184.4

p.P2434A

c.7300C>G

7 papers

NM_001184.4

p.I2435V

c.7303A>G

1 paper

NM_001184.4

p.R2431M

c.7292G>T

1 paper

NM_001184.4

p.P2430S

c.7288C>T

2 papers

NM_001184.4

p.H2437fs

c.7309_7310fs

1 paper

NM_001184.4

p.H2437Y

c.7309C>T

1 paper

NM_001184.4

p.F2436delFs

c.7308delA

1 paper

NM_001184.4

p.H2437R

c.7310A>G

1 paper

NM_001184.4

p.E2438Q

c.7312G>C

1 paper

NM_001184.4

p.L2428I

c.7282C>A

1 paper

NM_001184.4

p.F2427L

c.7281T>G

1 paper

NM_001184.4

p.F2427L

c.7281T>A