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.E2096D

c.6288A>C

Surrounding Variants

1 paper

NM_000051.4

p.E2096D

c.6288A>T

1 paper

NM_000051.4

p.E2096V

c.6287A>T

5 papers

NM_000051.4

p.E2097*

c.6289G>T

1 paper

NM_000051.4

p.E2096Q

c.6286G>C

1 paper

NM_000051.4

p.E2097D

c.6291A>C

1 paper

NM_000051.4

p.E2097D

c.6291A>T

9 papers

NM_000051.4

p.L2098P

c.6293T>C

2 papers

NM_000051.4

p.L2098R

c.6293T>G

2 papers

NM_000051.4

p.H2099Y

c.6295C>T

1 paper

NM_000051.4

p.H2099R

c.6296A>G

5 papers

NM_000051.4

p.E2094K

c.6280G>A

1 paper

NM_000051.4

p.E2094Q

c.6280G>C