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

5 papers

NM_000051.4

p.Y1753C

c.5258A>G

Surrounding Variants

1 paper

NM_000051.4

p.Y1753S

c.5258A>C

1 paper

NM_000051.4

p.Y1753F

c.5258A>T

2 papers

NM_000051.4

p.Y1753*

c.5259T>A

2 papers

NM_000051.4

p.Y1753*

c.5259T>G

1 paper

NM_000051.4

p.K1754delFs

c.5260delA

1 paper

NM_000051.4

p.K1754_M1755delFs

c.5260_5264del5

1 paper

NM_000051.4

p.I1752M

c.5256T>G

2 papers

NM_000051.4

p.Y1753_T1756del4

c.5257_5267del12

2 papers

NM_000051.4

p.I1752T

c.5255T>C

11 papers

NM_000051.4

p.K1754N

c.5262G>C

12 papers

NM_000051.4

p.K1754N

c.5262G>T

1 paper

NM_000051.4

p.M1755insFs

c.5263_5264insC