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.D148_I149delFs

c.442_446del5

Surrounding Variants

1 paper

NM_000051.4

p.D148insFs

c.442dupG

2 papers

NM_000051.4

p.K147R

c.440A>G

3 papers

NM_000051.4

p.D148N

c.442G>A

1 paper

NM_000051.4

p.D148H

c.442G>C

1 paper

NM_000051.4

p.D148fs

c.442_443fs

1 paper

NM_000051.4

p.D148Y

c.442G>T

1 paper

NM_000051.4

p.D148fs

c.442_443fs

2 papers

NM_000051.4

p.D148A

c.443A>C

2 papers

NM_000051.4

p.K147E

c.439A>G

1 paper

NM_000051.4

p.D148V

c.443A>T

3 papers

NM_000051.4

p.D148E

c.444C>A

1 paper

NM_000051.4

p.K147_R153insFs

c.439_457dup19