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.T21T

c.63A>G

Surrounding Variants

1 paper

NM_000051.4

p.T21T

c.63A>T

1 paper

NM_000051.4

p.T21K

c.62C>A

2 papers

NM_000051.4

p.T21insFs

c.63dupA

1 paper

NM_000051.4

p.T21insFs

c.62_63ins5

2 papers

NM_000051.4

p.T21I

c.62C>T

1 paper

NM_000051.4

p.E22_R23del2

c.64_68del6

3 papers

NM_000051.4

p.E22K

c.64G>A

1 paper

NM_000051.4

p.E22insFs

c.66dupA

1 paper

NM_000051.4

p.E22ins2

c.64_65ins6

4 papers

NM_000051.4

p.E22*

c.64G>T

1 paper

NM_000051.4

p.E22insFs

c.65_66ins4

1 paper

NM_000051.4

p.T21insFs

c.61_62ins5