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

65 papers

NM_000051.4

p.S1691R

c.5073T>G

Surrounding Variants

65 papers

NM_000051.4

p.S1691R

c.5073T>A

1 paper

NM_000051.4

p.K1692fs

c.5074_5075fs

1 paper

NM_000051.4

p.K1692*

c.5074A>T

1 paper

NM_000051.4

p.S1691insFs

c.5073dupT

1 paper

NM_000051.4

p.S1691delFs

c.5073delT

73 papers

NM_000051.4

p.S1691R

c.5071A>C

1 paper

NM_000051.4

p.S1691G

c.5071A>G

2 papers

NM_000051.4

p.S1691C

c.5071A>T

1 paper

NM_000051.4

p.K1692I

c.5075A>T

4 papers

NM_000051.4

p.K1692N

c.5076A>C

4 papers

NM_000051.4

p.K1692N

c.5076A>T

1 paper

NM_000051.4

p.H1690_S1691insFs

c.5070_5071insT