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

43 papers

NM_000051.4

p.P1526P

c.4578C>T

Surrounding Variants

2 papers

NM_000051.4

p.P1526H

c.4577C>A

1 paper

NM_000051.4

p.L1527V

c.4579C>G

5 papers

NM_000051.4

p.P1526L

c.4577C>T

1 paper

NM_000051.4

p.P1526delins

c.4577_4578delinsTT

2 papers

NM_000051.4

p.P1526T

c.4576C>A

1 paper

NM_000051.4

p.P1526fs

c.4576_4577fs

2 papers

NM_000051.4

p.P1526S

c.4576C>T

3 papers

NM_000051.4

p.L1527delFs

c.4579delC

1 paper

NM_000051.4

p.V1528L

c.4582G>C

1 paper

NM_000051.4

p.V1528fs

c.4582_4583fs

1 paper

NM_000051.4

p.V1528L

c.4582G>T

2 papers

NM_000051.4

p.V1528fs

c.4582_4583fs