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.S2011_I2012insFs

c.6033_6034insGT

Surrounding Variants

1 paper

NM_000051.4

p.S2011fs

c.6031_6032fs

1 paper

NM_000051.4

p.S2011G

c.6031A>G

1 paper

NM_000051.4

p.R2010R

c.6030A>G

1 paper

NM_000051.4

p.S2011del1

c.6031_6032delAGT

1 paper

NM_000051.4

p.I2012insFs

c.6034_6035insGT

1 paper

NM_000051.4

p.I2012fs

c.6034_6035fs

1 paper

NM_000051.4

p.R2010G

c.6028A>G

1 paper

NM_000051.4

p.Y2009*

c.6027C>A

2 papers

NM_000051.4

p.Y2009*

c.6027C>G

1 paper

NM_000051.4

p.I2012T

c.6035T>C

1 paper

NM_000051.4

p.Y2009S

c.6026A>C

2 papers

NM_000051.4

p.G2013delFs

c.6039delG