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.M963delFs

c.2888delT

Surrounding Variants

12 papers

NM_000051.4

p.M963V

c.2887A>G

1 paper

NM_000051.4

p.P962L

c.2885C>T

3 papers

NM_000051.4

p.M963I

c.2889G>A

3 papers

NM_000051.4

p.M963I

c.2889G>C

3 papers

NM_000051.4

p.M963I

c.2889G>T

2 papers

NM_000051.4

p.E964_E968del5

c.2890_2903del15

1 paper

NM_000051.4

p.P962fs

c.2884_2885fs

1 paper

NM_000051.4

p.E964*

c.2890G>T

1 paper

NM_000051.4

p.E964insFs

c.2891_2892insT

1 paper

NM_000051.4

p.E964V

c.2891A>T

1 paper

NM_000051.4

p.D965N

c.2893G>A

1 paper

NM_000051.4

p.L961fs

c.2881_2882fs