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

44 papers

NM_000051.4

p.R2598*

c.7792C>T

Surrounding Variants

1 paper

NM_000051.4

p.R2598fs

c.7792_7793fs

1 paper

NM_000051.4

p.R2598G

c.7792C>G

15 papers

NM_000051.4

p.R2598Q

c.7793G>A

2 papers

NM_000051.4

p.R2598L

c.7793G>T

1 paper

NM_000051.4

p.R2598_E2600Fs

c.7793_7798delinsCCFs

1 paper

NM_000051.4

p.T2599fs

c.7795_7796fs

1 paper

NM_000051.4

p.T2599_E2600insGT

c.7795_7799ins6

1 paper

NM_000051.4

p.D2597fs

c.7789_7790fs

4 papers

NM_000051.4

p.D2597Y

c.7789G>T

2 papers

NM_000051.4

p.D2597fs

c.7789_7790fs

1 paper

NM_000051.4

p.E2596_D2597Splc

c.7789-1G>A

2 papers

NM_000051.4

p.E2596_D2597Splc

c.7789-2A>G