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.D1320N

c.3958G>A

Surrounding Variants

1 paper

NM_000051.4

p.D1320_M1321delFs

c.3959_3962del4

1 paper

NM_000051.4

p.D1320_M1321del2

c.3958_3962del6

3 papers

NM_000051.4

p.Y1319C

c.3956A>G

5 papers

NM_000051.4

p.M1321V

c.3961A>G

2 papers

NM_000051.4

p.Y1319_D1320insFs

c.3955_3958dup4

1 paper

NM_000051.4

p.Y1319del1

c.3955_3956delTAT

1 paper

NM_000051.4

p.M1321T

c.3962T>C

21 papers

NM_000051.4

p.M1321I

c.3963G>A

21 papers

NM_000051.4

p.M1321I

c.3963G>C

23 papers

NM_000051.4

p.M1321I

c.3963G>T

1 paper

NM_000051.4

p.V1318G

c.3953T>G

8 papers

NM_000051.4

p.L1322I

c.3964C>A