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.L318V

c.952C>G

Surrounding Variants

1 paper

NM_000051.4

p.L318Q

c.953T>A

1 paper

NM_000051.4

p.L318delFs

c.952delC

2 papers

NM_000051.4

p.D317G

c.950A>G

1 paper

NM_000051.4

p.D317V

c.950A>T

1 paper

NM_000051.4

p.L319L

c.955C>T

2 papers

NM_000051.4

p.D317N

c.949G>A

1 paper

NM_000051.4

p.D317insFs

c.949_950insC

2 papers

NM_000051.4

p.Y316*

c.948T>A

1 paper

NM_000051.4

p.L319P

c.956T>C

2 papers

NM_000051.4

p.Y316*

c.948T>G

1 paper

NM_000051.4

p.L319R

c.956T>G

1 paper

NM_000051.4

p.Y316C

c.947A>G