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.T491A

c.1471A>G

Surrounding Variants

1 paper

NM_000051.4

p.T491fs

c.1471_1472fs

1 paper

NM_000051.4

p.T491_F492insT

c.1471_1475ins3

1 paper

NM_000051.4

p.T491P

c.1471A>C

1 paper

NM_000051.4

p.T491S

c.1471A>T

1 paper

NM_000051.4

p.T491fs

c.1471_1472fs

1 paper

NM_000051.4

p.T491delFs

c.1471_1472delAC

3 papers

NM_000051.4

p.F492insFs

c.1476dupT

1 paper

NM_000051.4

p.T491T

c.1473C>G

6 papers

NM_000051.4

p.I490T

c.1469T>C

1 paper

NM_000051.4

p.I490insFs

c.1470dupT

6 papers

NM_000051.4

p.I490V

c.1468A>G

2 papers

NM_000051.4

p.I490delFs

c.1469delT