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.L472L

c.1414C>T

Surrounding Variants

1 paper

NM_000051.4

p.E473insFs

c.1417dupG

2 papers

NM_000051.4

p.N471S

c.1412A>G

2 papers

NM_000051.4

p.L472L

c.1416A>G

1 paper

NM_000051.4

p.L472L

c.1416A>T

1 paper

NM_000051.4

p.N471insFs

c.1411_1412insT

2 papers

NM_000051.4

p.N471H

c.1411A>C

1 paper

NM_000051.4

p.E473K

c.1417G>A

1 paper

NM_000051.4

p.E473Q

c.1417G>C

2 papers

NM_000051.4

p.E473*

c.1417G>T

1 paper

NM_000051.4

p.E473G

c.1418A>G

3 papers

NM_000051.4

p.S470*

c.1409C>A

3 papers

NM_000051.4

p.S470*

c.1409C>G