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

2 papers

NM_000051.4

p.M780K

c.2339T>A

Surrounding Variants

1 paper

NM_000051.4

p.M780_Q781delFs

c.2340_2343del4

1 paper

NM_000051.4

p.M780L

c.2338A>C

1 paper

NM_000051.4

p.M780V

c.2338A>G

1 paper

NM_000051.4

p.M780L

c.2338A>T

2 papers

NM_000051.4

p.Q781E

c.2341C>G

14 papers

NM_000051.4

p.Q781*

c.2341C>T

1 paper

NM_000051.4

p.M779I

c.2337G>A

1 paper

NM_000051.4

p.M779I

c.2337G>C

1 paper

NM_000051.4

p.M779I

c.2337G>T

1 paper

NM_000051.4

p.Q781R

c.2342A>G

7 papers

NM_000051.4

p.M779T

c.2336T>C

1 paper

NM_000051.4

p.M779insFs

c.2336dupT