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.I559insFs

c.1677dupA

Surrounding Variants

1 paper

NM_000051.4

p.I559V

c.1675A>G

1 paper

NM_000051.4

p.E560_V566del7

c.1678_1697del21

2 papers

NM_000051.4

p.E560K

c.1678G>A

2 papers

NM_000051.4

p.G558E

c.1673G>A

2 papers

NM_000051.4

p.G558V

c.1673G>T

4 papers

NM_000051.4

p.I559delFs

c.1675delA

1 paper

NM_000051.4

p.G558R

c.1672G>A

1 paper

NM_000051.4

p.G558fs

c.1672_1673fs

2 papers

NM_000051.4

p.G558*

c.1672G>T

2 papers

NM_000051.4

p.Q561K

c.1681C>A

3 papers

NM_000051.4

p.Q561*

c.1681C>T

1 paper

NM_000051.4

p.N562delFs

c.1685delA