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

2 papers

NM_000051.4

p.N1784D

c.5350A>G

Surrounding Variants

1 paper

NM_000051.4

p.N1784fs

c.5350_5351fs

4 papers

NM_000051.4

p.N1784fs

c.5350_5351fs

1 paper

NM_000051.4

p.P1785insFs

c.5353dupC

1 paper

NM_000051.4

p.N1784T

c.5351A>C

2 papers

NM_000051.4

p.N1784S

c.5351A>G

1 paper

NM_000051.4

p.N1784_G1788del5

c.5350_5363del15

2 papers

NM_000051.4

p.N1784delFs

c.5352delC

1 paper

NM_000051.4

p.N1784K

c.5352C>A

1 paper

NM_000051.4

p.N1784K

c.5352C>G

1 paper

NM_000051.4

p.P1785A

c.5353C>G

1 paper

NM_000051.4

p.P1785fs

c.5353_5354fs

3 papers

NM_000051.4

p.N1784insFs

c.5351dupA