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.I265T

c.794T>C

Surrounding Variants

1 paper

NM_000051.4

p.I265insFs

c.794_795ins4

3 papers

NM_000051.4

p.W266insFs

c.796_797ins4

3 papers

NM_000051.4

p.I265fs

c.793_794fs

2 papers

NM_000051.4

p.I265V

c.793A>G

1 paper

NM_000051.4

p.I265_T267delFs

c.795_801del7

2 papers

NM_000051.4

p.I265I

c.795T>A

1 paper

NM_000051.4

p.W266R

c.796T>A

1 paper

NM_000051.4

p.W266R

c.796T>C

2 papers

NM_000051.4

p.W266delFs

c.797delG

1 paper

NM_000051.4

p.W266fs

c.796_797fs

1 paper

NM_000051.4

p.Y264_I265insFs

c.792_793insT

1 paper

NM_000051.4

p.Y264S

c.791A>C