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.S775A

c.2323T>G

Surrounding Variants

1 paper

NM_000051.4

p.S775Y

c.2324C>A

1 paper

NM_000051.4

p.S775insFs

c.2324_2325ins8

1 paper

NM_000051.4

p.S775F

c.2324C>T

1 paper

NM_000051.4

p.G774V

c.2321G>T

2 papers

NM_000051.4

p.G774C

c.2320G>T

2 papers

NM_000051.4

p.I773I

c.2319T>C

1 paper

NM_000051.4

p.G774_L776del3

c.2320_2327del9

2 papers

NM_000051.4

p.L776F

c.2328G>C

2 papers

NM_000051.4

p.L776F

c.2328G>T

1 paper

NM_000051.4

p.R777_N778delFs

c.2329_2332del4

1 paper

NM_000051.4

p.I773T

c.2318T>C

1 paper

NM_000051.4

p.R777insFs

c.2330dupG