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.S1966G

c.5896A>G

Surrounding Variants

1 paper

NM_000051.4

p.S1966fs

c.5896_5897fs

2 papers

NM_000051.4

p.S1966N

c.5897G>A

1 paper

NM_000051.4

p.S1966I

c.5897G>T

1 paper

NM_000051.4

p.M1967delFs

c.5899_5900delAT

1 paper

NM_000051.4

p.K1965_M1967insFs

c.5894_5900dup7

2 papers

NM_000051.4

p.K1965fs

c.5893_5894fs

1 paper

NM_000051.4

p.M1967V

c.5899A>G

1 paper

NM_000051.4

p.K1965fs

c.5893_5894fs

2 papers

NM_000051.4

p.M1967fs

c.5899_5900fs

1 paper

NM_000051.4

p.K1964N

c.5892G>C

1 paper

NM_000051.4

p.K1964N

c.5892G>T

1 paper

NM_000051.4

p.S1966delFs

c.5896delA