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.Q286R

c.857A>G

Surrounding Variants

1 paper

NM_000051.4

p.I287_K293insFs

c.859_877dup19

1 paper

NM_000051.4

p.Q286Q

c.858A>G

1 paper

NM_000051.4

p.Q286K

c.856C>A

1 paper

NM_000051.4

p.Q286*

c.856C>T

2 papers

NM_000051.4

p.I287V

c.859A>G

1 paper

NM_000051.4

p.I287F

c.859A>T

1 paper

NM_000051.4

p.L285L

c.855G>A

3 papers

NM_000051.4

p.L285Q

c.854T>A

1 paper

NM_000051.4

p.I287N

c.860T>A

1 paper

NM_000051.4

p.L285P

c.854T>C

1 paper

NM_000051.4

p.L285R

c.854T>G

1 paper

NM_000051.4

p.L285M

c.853C>A