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.C489F

c.1466G>T

Surrounding Variants

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

18 papers

NM_000051.4

p.W488*

c.1464G>A

17 papers

NM_000051.4

p.W488C

c.1464G>C

1 paper

NM_000051.4

p.C489insFs

c.1465_1466insT

19 papers

NM_000051.4

p.W488C

c.1464G>T

19 papers

NM_000051.4

p.W488*

c.1463G>A

6 papers

NM_000051.4

p.I490T

c.1469T>C

1 paper

NM_000051.4

p.T491delFs

c.1471_1472delAC

1 paper

NM_000051.4

p.W488fs

c.1462_1463fs

1 paper

NM_000051.4

p.T491fs

c.1471_1472fs