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.A234G

c.701C>G

Surrounding Variants

1 paper

NM_000051.4

p.A234V

c.701C>T

2 papers

NM_000051.4

p.A234S

c.700G>T

1 paper

NM_000051.4

p.L233F

c.699A>C

1 paper

NM_000051.4

p.L233F

c.699A>T

4 papers

NM_000051.4

p.A235T

c.703G>A

1 paper

NM_000051.4

p.A235delFs

c.704delC

1 paper

NM_000051.4

p.A235delFs

c.704_705delCT

1 paper

NM_000051.4

p.A235G

c.704C>G

1 paper

NM_000051.4

p.A235V

c.704C>T

3 papers

NM_000051.4

p.L233*

c.698T>A

3 papers

NM_000051.4

p.L233*

c.698T>G

1 paper

NM_000051.4

p.A235_L236insFs

c.705_706insA