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.G2013R

c.6037G>A

Surrounding Variants

1 paper

NM_000051.4

p.G2013R

c.6037G>C

2 papers

NM_000051.4

p.G2013delFs

c.6039delG

1 paper

NM_000051.4

p.G2013V

c.6038G>T

1 paper

NM_000051.4

p.I2012T

c.6035T>C

1 paper

NM_000051.4

p.I2012insFs

c.6034_6035insGT

1 paper

NM_000051.4

p.I2012fs

c.6034_6035fs

4 papers

NM_000051.4

p.E2014K

c.6040G>A

2 papers

NM_000051.4

p.E2014Q

c.6040G>C

6 papers

NM_000051.4

p.E2014*

c.6040G>T

1 paper

NM_000051.4

p.S2011_I2012insFs

c.6033_6034insGT

1 paper

NM_000051.4

p.S2011fs

c.6031_6032fs

1 paper

NM_000051.4

p.S2011G

c.6031A>G