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.F1870fs

c.5608_5609fs

Surrounding Variants

1 paper

NM_000051.4

p.F1870L

c.5608T>C

1 paper

NM_000051.4

p.F1870L

c.5610C>A

1 paper

NM_000051.4

p.F1870L

c.5610C>G

2 papers

NM_000051.4

p.T1871P

c.5611A>C

1 paper

NM_000051.4

p.F1869V

c.5605T>G

1 paper

NM_000051.4

p.F1869insFs

c.5605dupT

1 paper

NM_000051.4

p.F1869delFs

c.5605delT

12 papers

NM_000051.4

p.T1871I

c.5612C>T

1 paper

NM_000051.4

p.S1872C

c.5614A>T

1 paper

NM_000051.4

p.S1872fs

c.5614_5615fs

1 paper

NM_000051.4

p.G1868fs

c.5602_5603fs

1 paper

NM_000051.4

p.G1868_F1869delFs

c.5603_5606del4