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.P2029P

c.6087C>T

Surrounding Variants

18 papers

NM_000051.4

p.I2030V

c.6088A>G

1 paper

NM_000051.4

p.I2030delFs

c.6090delT

1 paper

NM_000051.4

p.P2029L

c.6086C>T

2 papers

NM_000051.4

p.Q2028H

c.6084A>C

2 papers

NM_000051.4

p.Q2028H

c.6084A>T

1 paper

NM_000051.4

p.Q2028R

c.6083A>G

1 paper

NM_000051.4

p.T2031S

c.6091A>T

1 paper

NM_000051.4

p.Q2028K

c.6082C>A

1 paper

NM_000051.4

p.T2031S

c.6092C>G

14 papers

NM_000051.4

p.Q2028*

c.6082C>T

4 papers

NM_000051.4

p.T2031I

c.6092C>T

1 paper

NM_000051.4

p.Q2028fs

c.6082_6083fs