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.T3024delFs

c.9071_9072delCT

Surrounding Variants

4 papers

NM_000051.4

p.T3024P

c.9070A>C

1 paper

NM_000051.4

p.T3024A

c.9070A>G

1 paper

NM_000051.4

p.T3024fs

c.9070_9071fs

2 papers

NM_000051.4

p.T3024I

c.9071C>T

1 paper

NM_000051.4

p.T3024_V3025delFs

c.9070_9073del4

2 papers

NM_000051.4

p.T3024_V3025del2

c.9070_9074del6

6 papers

NM_000051.4

p.G3023D

c.9068G>A

2 papers

NM_000051.4

p.G3023V

c.9068G>T

2 papers

NM_000051.4

p.T3024T

c.9072T>G

1 paper

NM_000051.4

p.G3023S

c.9067G>A

1 paper

NM_000051.4

p.V3025M

c.9073G>A

2 papers

NM_000051.4

p.G3023fs

c.9067_9068fs