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

3 papers

NM_000051.4

p.E1009*

c.3025G>T

Surrounding Variants

3 papers

NM_000051.4

p.E1009Q

c.3025G>C

1 paper

NM_000051.4

p.S1008S

c.3024T>A

1 paper

NM_000051.4

p.S1008_E1009insFs

c.3024_3025insT

2 papers

NM_000051.4

p.S1008_E1009delFs

c.3024_3025delTG

1 paper

NM_000051.4

p.N1010Y

c.3028A>T

1 paper

NM_000051.4

p.S1008fs

c.3022_3023fs

2 papers

NM_000051.4

p.S1008delFs

c.3023delC

2 papers

NM_000051.4

p.S1008fs

c.3022_3023fs

1 paper

NM_000051.4

p.D1007insFs

c.3020_3021insC

1 paper

NM_000051.4

p.D1007G

c.3020A>G

3 papers

NM_000051.4

p.T1011A

c.3031A>G

1 paper

NM_000051.4

p.T1011I

c.3032C>T