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.L941P

c.2822T>C

Surrounding Variants

1 paper

NM_001184.4

p.L941F

c.2821C>T

1 paper

NM_001184.4

p.H942Y

c.2824C>T

1 paper

NM_001184.4

p.S940Y

c.2819C>A

1 paper

NM_001184.4

p.S944C

c.2830A>T

1 paper

NM_001184.4

p.F936_L937delFs

c.2808_2811del4

1 paper

NM_001184.4

p.Q935_F936Splc

c.2806-1G>A

1 paper

NM_001184.4

p.A948A

c.2844A>C

1 paper

NM_001184.4

p.L949_P950insC

c.2845_2849ins3

1 paper

NM_001184.4

p.Q945_A948del4

c.2833_2843del12

1 paper

NM_001184.4

p.P950L

c.2849C>T

1 paper

NM_001184.4

p.Q935_F936Splc

c.2806-19A>G

1 paper

NM_001184.4

p.P953R

c.2858C>G