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.M2041I

c.6123G>T

Surrounding Variants

1 paper

NM_000051.4

p.M2041I

c.6123G>A

1 paper

NM_000051.4

p.M2041I

c.6123G>C

2 papers

NM_000051.4

p.W2042R

c.6124T>A

2 papers

NM_000051.4

p.W2042R

c.6124T>C

2 papers

NM_000051.4

p.M2041V

c.6121A>G

2 papers

NM_000051.4

p.W2042*

c.6125G>A

1 paper

NM_000051.4

p.W2042L

c.6125G>T

2 papers

NM_000051.4

p.W2042*

c.6126G>A

1 paper

NM_000051.4

p.W2042C

c.6126G>C

1 paper

NM_000051.4

p.W2042C

c.6126G>T

1 paper

NM_000051.4

p.A2040G

c.6119C>G

2 papers

NM_000051.4

p.G2043S

c.6127G>A