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

25 papers

NM_000051.4

p.K482Q

c.1444A>C

Surrounding Variants

1 paper

NM_000051.4

p.K482E

c.1444A>G

1 paper

NM_000051.4

p.K482*

c.1444A>T

2 papers

NM_000051.4

p.L481F

c.1443A>C

2 papers

NM_000051.4

p.L481L

c.1443A>G

2 papers

NM_000051.4

p.L481F

c.1443A>T

1 paper

NM_000051.4

p.K482N

c.1446A>C

1 paper

NM_000051.4

p.K482N

c.1446A>T

1 paper

NM_000051.4

p.L483_W484delFs

c.1449_1450delCT

1 paper

NM_000051.4

p.L483_W484del2

c.1447_1451del6

10 papers

NM_000051.4

p.L481*

c.1442T>A

1 paper

NM_000051.4

p.L481S

c.1442T>C

11 papers

NM_000051.4

p.L481*

c.1442T>G