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

4 papers

NM_000051.4

p.N2736fs

c.8206_8207fs

Surrounding Variants

1 paper

NM_000051.4

p.N2736D

c.8206A>G

1 paper

NM_000051.4

p.N2736Y

c.8206A>T

1 paper

NM_000051.4

p.N2736fs

c.8206_8207fs

1 paper

NM_000051.4

p.N2736S

c.8207A>G

1 paper

NM_000051.4

p.C2735*

c.8205T>A

1 paper

NM_000051.4

p.N2736insFs

c.8207dupA

1 paper

NM_000051.4

p.N2736insFs

c.8207_8208insAA

1 paper

NM_000051.4

p.N2736delFs

c.8206_8207delAA

1 paper

NM_000051.4

p.C2735Y

c.8204G>A

1 paper

NM_000051.4

p.N2736K

c.8208T>A

1 paper

NM_000051.4

p.N2736K

c.8208T>G

1 paper

NM_000051.4

p.T2737insFs

c.8210dupC