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.N1430Y

c.4288A>T

Surrounding Variants

1 paper

NM_000051.4

p.N1430S

c.4289A>G

1 paper

NM_000051.4

p.N1430_N1431Fs

c.4290_4291delinsTFs

1 paper

NM_000051.4

p.T1429S

c.4285A>T

1 paper

NM_000051.4

p.N1431fs

c.4291_4292fs

1 paper

NM_000051.4

p.T1429fs

c.4285_4286fs

1 paper

NM_000051.4

p.N1431insFs

c.4293dupT

3 papers

NM_000051.4

p.N1431S

c.4292A>G

1 paper

NM_000051.4

p.E1428G

c.4283A>G

3 papers

NM_000051.4

p.E1428insFs

c.4284dupA

1 paper

NM_000051.4

p.V1432Fs

c.4294delinsTTFs

1 paper

NM_000051.4

p.V1432fs

c.4294_4295fs

1 paper

NM_000051.4

p.A1427A

c.4281T>C