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.S132F

c.395C>T

Surrounding Variants

1 paper

NM_000051.4

p.S132C

c.395C>G

1 paper

NM_000051.4

p.S132T

c.394T>A

1 paper

NM_000051.4

p.S132_N133insFs

c.396_397insAC

1 paper

NM_000051.4

p.S132fs

c.394_395fs

1 paper

NM_000051.4

p.S131_S132insFs

c.393_394insC

1 paper

NM_000051.4

p.N133insFs

c.397_398insT

3 papers

NM_000051.4

p.N133S

c.398A>G

3 papers

NM_000051.4

p.N133I

c.398A>T

8 papers

NM_000051.4

p.S131*

c.392C>A

9 papers

NM_000051.4

p.S131*

c.392C>G

1 paper

NM_000051.4

p.S131L

c.392C>T

1 paper

NM_000051.4

p.N133K

c.399T>A