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

3 papers

NM_000051.4

p.H2430P

c.7289A>C

Surrounding Variants

2 papers

NM_000051.4

p.H2430R

c.7289A>G

2 papers

NM_000051.4

p.H2430Q

c.7290T>A

2 papers

NM_000051.4

p.H2430Q

c.7290T>G

1 paper

NM_000051.4

p.I2432delFs

c.7294delA

2 papers

NM_000051.4

p.K2431_I2432delFs

c.7293_7294delAA

1 paper

NM_000051.4

p.K2431fs

c.7291_7292fs

3 papers

NM_000051.4

p.K2431E

c.7291A>G

2 papers

NM_000051.4

p.K2431T

c.7292A>C

1 paper

NM_000051.4

p.K2431N

c.7293A>C

1 paper

NM_000051.4

p.K2431N

c.7293A>T

2 papers

NM_000051.4

p.I2432V

c.7294A>G

6 papers

NM_000051.4

p.I2432F

c.7294A>T