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.K2089E

c.6265A>G

Surrounding Variants

1 paper

NM_000051.4

p.K2089*

c.6265A>T

1 paper

NM_000051.4

p.N2088S

c.6263A>G

1 paper

NM_000051.4

p.K2089K

c.6267A>G

2 papers

NM_000051.4

p.N2088fs

c.6262_6263fs

1 paper

NM_000051.4

p.D2090N

c.6268G>A

1 paper

NM_000051.4

p.D2090fs

c.6268_6269fs

1 paper

NM_000051.4

p.D2090Y

c.6268G>T

2 papers

NM_000051.4

p.E2087K

c.6259G>A

1 paper

NM_000051.4

p.E2087*

c.6259G>T

1 paper

NM_000051.4

p.E2087fs

c.6259_6260fs

7 papers

NM_000051.4

p.W2091*

c.6272G>A

1 paper

NM_000051.4

p.C2092delFs

c.6275_6276delGT