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

5 papers

NM_000051.4

p.G134S

c.400G>A

Surrounding Variants

1 paper

NM_000051.4

p.G134R

c.400G>C

1 paper

NM_000051.4

p.G134_A135insF

c.400_404ins3

3 papers

NM_000051.4

p.G134C

c.400G>T

1 paper

NM_000051.4

p.G134_A139Fs

c.400_417delinsAFs

5 papers

NM_000051.4

p.G134D

c.401G>A

1 paper

NM_000051.4

p.G134_A135del1

c.402_404delTGC

1 paper

NM_000051.4

p.N133K

c.399T>A

3 papers

NM_000051.4

p.N133S

c.398A>G

3 papers

NM_000051.4

p.N133I

c.398A>T

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