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.G255E

c.764G>A

Surrounding Variants

2 papers

NM_000051.4

p.G255R

c.763G>A

2 papers

NM_000051.4

p.G255R

c.763G>C

1 paper

NM_000051.4

p.G255*

c.763G>T

3 papers

NM_000051.4

p.L254L

c.762A>G

1 paper

NM_000051.4

p.D256H

c.766G>C

1 paper

NM_000051.4

p.D256A

c.767A>C

1 paper

NM_000051.4

p.D256G

c.767A>G

1 paper

NM_000051.4

p.D256V

c.767A>T

2 papers

NM_000051.4

p.L254*

c.761T>A

1 paper

NM_000051.4

p.G255_D256del1

c.764_766delGAG

1 paper

NM_000051.4

p.L254L

c.760T>C

1 paper

NM_000051.4

p.L254_G255insCA

c.760_764ins6