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.H46delFs

c.136_137delCA

Surrounding Variants

2 papers

NM_000051.4

p.R45R

c.135G>A

4 papers

NM_000051.4

p.R45R

c.135G>C

9 papers

NM_000051.4

p.H46_S47delFs

c.138_141del4

1 paper

NM_000051.4

p.H46insFs

c.136_137ins5

6 papers

NM_000051.4

p.H46fs

c.136_137fs

1 paper

NM_000051.4

p.H46Y

c.136C>T

8 papers

NM_000051.4

p.R45Q

c.134G>A

3 papers

NM_000051.4

p.R45P

c.134G>C

1 paper

NM_000051.4

p.R45L

c.134G>T

2 papers

NM_000051.4

p.H46P

c.137A>C

1 paper

NM_000051.4

p.H46L

c.137A>T

1 paper

NM_000051.4

p.R45fs

c.133_134fs