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

4 papers

NM_000051.4

p.N975S

c.2924A>G

Surrounding Variants

2 papers

NM_000051.4

p.N975fs

c.2923_2924fs

1 paper

NM_000051.4

p.N975K

c.2925T>A

1 paper

NM_000051.4

p.N975K

c.2925T>G

1 paper

NM_000051.4

p.V976_C977delFs

c.2926_2930del5

1 paper

NM_000051.4

p.S974S

c.2922C>A

1 paper

NM_000051.4

p.N975insFs

c.2924dupA

1 paper

NM_000051.4

p.S974_N975insFs

c.2922_2923insAA

1 paper

NM_000051.4

p.S974S

c.2922C>T

1 paper

NM_000051.4

p.N975delFs

c.2923_2924delAA

1 paper

NM_000051.4

p.N975_V976del2

c.2923_2927del6

8 papers

NM_000051.4

p.S974Splc

c.2922-1G>A

1 paper

NM_000051.4

p.S974Splc

c.2922-1G>T