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.L961fs

c.2881_2882fs

Surrounding Variants

3 papers

NM_000051.4

p.L961fs

c.2881_2882fs

8 papers

NM_000051.4

p.P960H

c.2879C>A

6 papers

NM_000051.4

p.P960L

c.2879C>T

1 paper

NM_000051.4

p.P960T

c.2878C>A

1 paper

NM_000051.4

p.P962fs

c.2884_2885fs

8 papers

NM_000051.4

p.Y959*

c.2877C>A

8 papers

NM_000051.4

p.Y959*

c.2877C>G

1 paper

NM_000051.4

p.Y959Y

c.2877C>T

1 paper

NM_000051.4

p.P962L

c.2885C>T

1 paper

NM_000051.4

p.P960insFs

c.2880dupC

11 papers

NM_000051.4

p.P960delFs

c.2880delC

12 papers

NM_000051.4

p.M963V

c.2887A>G