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.L975_S976del2

c.2923_2927del6

Surrounding Variants

2 papers

NM_001184.4

p.L975S

c.2924T>C

4 papers

NM_001184.4

p.T974M

c.2921C>T

1 paper

NM_001184.4

p.N980I

c.2939A>T

1 paper

NM_001184.4

p.N980fs

c.2938_2939fs

1 paper

NM_001184.4

p.N973S

c.2918A>G

1 paper

NM_001184.4

p.A979_N980del2

c.2935_2939del6

1 paper

NM_001184.4

p.A971fs

c.2911_2912fs

2 papers

NM_001184.4

p.F982F

c.2946C>T

1 paper

NM_001184.4

p.A971delFs

c.2911delC

2 papers

NM_001184.4

p.A971delins

c.2911_2912delinsAA

3 papers

NM_001184.4

p.D983N

c.2947G>A

1 paper

NM_001184.4

p.F982_D983delFs

c.2946_2947delCG