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.K792_K793Splc

c.2376+1G>C

Surrounding Variants

10 papers

NM_000051.4

p.K792_K793Splc

c.2376+1G>A

4 papers

NM_000051.4

p.K792_K793Splc

c.2376+1G>T

6 papers

NM_000051.4

p.K792K

c.2376G>A

1 paper

NM_000051.4

p.K792_K793Splc

c.2376+2T>C

1 paper

NM_000051.4

p.K792T

c.2375A>C

1 paper

NM_000051.4

p.K792_K793Splc

c.2376+3A>G

2 papers

NM_000051.4

p.K792_K793Splc

c.2376+3A>T

1 paper

NM_000051.4

p.K792_K793insT

c.2374_2378ins3

3 papers

NM_000051.4

p.K792E

c.2374A>G

1 paper

NM_000051.4

p.T791T

c.2373C>T

1 paper

NM_000051.4

p.T791N

c.2372C>A

1 paper

NM_000051.4

p.K792_K793Splc

c.2376+7T>C