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.T1697fs

c.5089_5090fs

Surrounding Variants

2 papers

NM_000051.4

p.T1697P

c.5089A>C

15 papers

NM_000051.4

p.T1697A

c.5089A>G

3 papers

NM_000051.4

p.T1697I

c.5090C>T

1 paper

NM_000051.4

p.Y1696Y

c.5088T>C

1 paper

NM_000051.4

p.Y1696insFs

c.5088dupT

1 paper

NM_000051.4

p.K1698delFs

c.5092delA

1 paper

NM_000051.4

p.K1698*

c.5092A>T

1 paper

NM_000051.4

p.K1698T

c.5093A>C

1 paper

NM_000051.4

p.K1698R

c.5093A>G

1 paper

NM_000051.4

p.A1699fs

c.5095_5096fs

2 papers

NM_000051.4

p.A1699V

c.5096C>T

4 papers

NM_000051.4

p.A1694G

c.5081C>G