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.D7_E16delFs

c.19_47del29

Surrounding Variants

1 paper

NM_000051.4

p.N6K

c.18T>A

2 papers

NM_000051.4

p.N6N

c.18T>C

1 paper

NM_000051.4

p.N6K

c.18T>G

1 paper

NM_000051.4

p.D7insFs

c.19dupG

1 paper

NM_000051.4

p.N6_D7ins1

c.18_19insGCG

6 papers

NM_000051.4

p.N6insFs

c.17_18insT

1 paper

NM_000051.4

p.N6_D7insFs

c.18_19insTT

1 paper

NM_000051.4

p.N6I

c.17A>T

5 papers

NM_000051.4

p.N6delFs

c.18delT

1 paper

NM_000051.4

p.D7H

c.19G>C

1 paper

NM_000051.4

p.D7insFs

c.19_20insA

1 paper

NM_000051.4

p.D7insFs

c.19_20insC