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

5 papers

NM_000051.4

p.T1926A

c.5776A>G

Surrounding Variants

1 paper

NM_000051.4

p.T1926insFs

c.5776_5777ins40

1 paper

NM_000051.4

p.T1926fs

c.5776_5777fs

2 papers

NM_000051.4

p.T1926I

c.5777C>T

1 paper

NM_000051.4

p.T1926_I1927ins3

c.5778_5779ins9

1 paper

NM_000051.4

p.G1925E

c.5774G>A

1 paper

NM_000051.4

p.I1927delFs

c.5780delT

1 paper

NM_000051.4

p.G1925*

c.5773G>T

2 papers

NM_000051.4

p.G1925delFs

c.5773delG

5 papers

NM_000051.4

p.S1924*

c.5771C>A

5 papers

NM_000051.4

p.S1924*

c.5771C>G

1 paper

NM_000051.4

p.S1924L

c.5771C>T

2 papers

NM_000051.4

p.F1928fs

c.5782_5783fs