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.A135delFs

c.404delC

Surrounding Variants

1 paper

NM_000051.4

p.A135T

c.403G>A

1 paper

NM_000051.4

p.A135P

c.403G>C

1 paper

NM_000051.4

p.A135insFs

c.403_404ins4

1 paper

NM_000051.4

p.A135fs

c.403_404fs

3 papers

NM_000051.4

p.A135fs

c.403_404fs

1 paper

NM_000051.4

p.A135_Y137Fs

c.403_409delinsCCACTTFs

3 papers

NM_000051.4

p.A135V

c.404C>T

1 paper

NM_000051.4

p.A135_I144delFs

c.405_430del26

2 papers

NM_000051.4

p.G134G

c.402T>A

2 papers

NM_000051.4

p.A135delFs

c.403delG

2 papers

NM_000051.4

p.I136_A139del4

c.406_416del12

5 papers

NM_000051.4

p.G134D

c.401G>A