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.N321_I323insFs

c.963_969dup7

Surrounding Variants

2 papers

NM_000051.4

p.E322_I323delFs

c.964_968del5

1 paper

NM_000051.4

p.E322_I323insFs

c.966_967ins4

2 papers

NM_000051.4

p.N321T

c.962A>C

1 paper

NM_000051.4

p.V320_N321insFs

c.960_961insAA

4 papers

NM_000051.4

p.V320M

c.958G>A

2 papers

NM_000051.4

p.E322K

c.964G>A

1 paper

NM_000051.4

p.E322Q

c.964G>C

1 paper

NM_000051.4

p.E322A

c.965A>C

1 paper

NM_000051.4

p.E322G

c.965A>G

1 paper

NM_000051.4

p.E322D

c.966G>C

1 paper

NM_000051.4

p.E322D

c.966G>T

1 paper

NM_000051.4

p.L319P

c.956T>C