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.V1318_D1320del0

c.3952_3960del9

Surrounding Variants

1 paper

NM_000051.4

p.K1317N

c.3951G>C

1 paper

NM_000051.4

p.K1317N

c.3951G>T

5 papers

NM_000051.4

p.V1318F

c.3952G>T

1 paper

NM_000051.4

p.V1318G

c.3953T>G

2 papers

NM_000051.4

p.Y1319_D1320insFs

c.3955_3958dup4

1 paper

NM_000051.4

p.Y1319del1

c.3955_3956delTAT

2 papers

NM_000051.4

p.T1316S

c.3947C>G

1 paper

NM_000051.4

p.T1316I

c.3947C>T

3 papers

NM_000051.4

p.Y1319C

c.3956A>G

2 papers

NM_000051.4

p.T1316S

c.3946A>T

1 paper

NM_000051.4

p.T1316delFs

c.3946delA

1 paper

NM_000051.4

p.D1320_M1321del2

c.3958_3962del6