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

1 paper

NM_000051.4

p.T297_Q298delFs

c.891_892delCC

Surrounding Variants

1 paper

NM_000051.4

p.T297S

c.889A>T

1 paper

NM_000051.4

p.T297delFs

c.890delC

3 papers

NM_000051.4

p.T297I

c.890C>T

2 papers

NM_000051.4

p.K296R

c.887A>G

1 paper

NM_000051.4

p.K296I

c.887A>T

1 paper

NM_000051.4

p.T297T

c.891C>T

1 paper

NM_000051.4

p.K296E

c.886A>G

1 paper

NM_000051.4

p.K296*

c.886A>T

1 paper

NM_000051.4

p.Q298K

c.892C>A

1 paper

NM_000051.4

p.Q298E

c.892C>G

4 papers

NM_000051.4

p.Q298*

c.892C>T

1 paper

NM_000051.4

p.Q298P

c.893A>C