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

2 papers

NM_000051.4

p.K293I

c.878A>T

Surrounding Variants

1 paper

NM_000051.4

p.K293R

c.878A>G

1 paper

NM_000051.4

p.K293Q

c.877A>C

1 paper

NM_000051.4

p.K293K

c.879A>G

2 papers

NM_000051.4

p.K293*

c.877A>T

1 paper

NM_000051.4

p.K293_G294Fs

c.879_880delinsAFs

3 papers

NM_000051.4

p.P292P

c.876G>A

2 papers

NM_000051.4

p.G294R

c.880G>C

1 paper

NM_000051.4

p.P292P

c.876G>T

3 papers

NM_000051.4

p.P292R

c.875C>G

62 papers

NM_000051.4

p.P292L

c.875C>T

1 paper

NM_000051.4

p.P292delFs

c.876delG

1 paper

NM_000051.4

p.G294E

c.881G>A