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.S1684C

c.5051C>G

Surrounding Variants

1 paper

NM_000051.4

p.S1684F

c.5051C>T

1 paper

NM_000051.4

p.S1684T

c.5050T>A

3 papers

NM_000051.4

p.T1685A

c.5053A>G

3 papers

NM_000051.4

p.T1685I

c.5054C>T

1 paper

NM_000051.4

p.F1683S

c.5048T>C

2 papers

NM_000051.4

p.T1685T

c.5055C>T

1 paper

NM_000051.4

p.F1683I

c.5047T>A

1 paper

NM_000051.4

p.F1683V

c.5047T>G

1 paper

NM_000051.4

p.F1683fs

c.5047_5048fs

8 papers

NM_000051.4

p.I1686V

c.5056A>G

1 paper

NM_000051.4

p.F1683_S1684delFs

c.5048_5052del5

2 papers

NM_000051.4

p.D1682G

c.5045A>G