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.T2438delFs

c.7313delC

Surrounding Variants

1 paper

NM_000051.4

p.T2438fs

c.7312_7313fs

1 paper

NM_000051.4

p.T2438P

c.7312A>C

9 papers

NM_000051.4

p.Y2437*

c.7311C>A

3 papers

NM_000051.4

p.T2438K

c.7313C>A

7 papers

NM_000051.4

p.Y2437*

c.7311C>G

1 paper

NM_000051.4

p.T2438R

c.7313C>G

23 papers

NM_000051.4

p.T2438I

c.7313C>T

3 papers

NM_000051.4

p.Y2437S

c.7310A>C

1 paper

NM_000051.4

p.T2438T

c.7314A>C

7 papers

NM_000051.4

p.Y2437C

c.7310A>G

1 paper

NM_000051.4

p.Y2437F

c.7310A>T

2 papers

NM_000051.4

p.Y2437N

c.7309T>A