Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000051.4

p.N2370D

c.7108A>G

Surrounding Variants

2 papers

NM_000051.4

p.N2370K

c.7110T>A

2 papers

NM_000051.4

p.N2370K

c.7110T>G

1 paper

NM_000051.4

p.G2369*

c.7105G>T

1 paper

NM_000051.4

p.Y2371H

c.7111T>C

1 paper

NM_000051.4

p.Y2371C

c.7112A>G

2 papers

NM_000051.4

p.Y2371F

c.7112A>T

4 papers

NM_000051.4

p.Y2371*

c.7113T>A

4 papers

NM_000051.4

p.Y2371*

c.7113T>G

1 paper

NM_000051.4

p.D2372N

c.7114G>A

1 paper

NM_000051.4

p.D2372V

c.7115A>T

1 paper

NM_000051.4

p.V2367I

c.7099G>A

1 paper

NM_000051.4

p.V2367L

c.7099G>C