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.V2923D

c.8768T>A

Surrounding Variants

1 paper

NM_000051.4

p.V2923G

c.8768T>G

3 papers

NM_000051.4

p.V2923fs

c.8767_8768fs

2 papers

NM_000051.4

p.V2923_E2924insFs

c.8769_8770insT

2 papers

NM_000051.4

p.V2923fs

c.8767_8768fs

3 papers

NM_000051.4

p.E2924K

c.8770G>A

1 paper

NM_000051.4

p.E2924*

c.8770G>T

2 papers

NM_000051.4

p.E2924delFs

c.8772delA

1 paper

NM_000051.4

p.V2923_E2924del2

c.8767_8771del6

1 paper

NM_000051.4

p.E2924G

c.8771A>G

1 paper

NM_000051.4

p.G2922D

c.8765G>A

1 paper

NM_000051.4

p.G2922A

c.8765G>C

10 papers

NM_000051.4

p.G2922_V2923insFs

c.8766_8767insT