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

3 papers

NM_000051.4

p.D1963G

c.5888A>G

Surrounding Variants

1 paper

NM_000051.4

p.D1963insFs

c.5889dupT

6 papers

NM_000051.4

p.D1963N

c.5887G>A

2 papers

NM_000051.4

p.D1963Y

c.5887G>T

1 paper

NM_000051.4

p.D1963delFs

c.5888delA

1 paper

NM_000051.4

p.K1965_S1966delFs

c.5893_5897del5

2 papers

NM_000051.4

p.K1964fs

c.5890_5891fs

39 papers

NM_000051.4

p.K1964E

c.5890A>G

6 papers

NM_000051.4

p.K1964*

c.5890A>T

1 paper

NM_000051.4

p.K1964fs

c.5890_5891fs

1 paper

NM_000051.4

p.A1962V

c.5885C>T

1 paper

NM_000051.4

p.A1962P

c.5884G>C

1 paper

NM_000051.4

p.K1964N

c.5892G>C