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.L115V

c.343C>G

Surrounding Variants

1 paper

NM_000051.4

p.L115insFs

c.344dupT

2 papers

NM_000051.4

p.R114R

c.342G>A

1 paper

NM_000051.4

p.L115P

c.344T>C

3 papers

NM_000051.4

p.L115R

c.344T>G

1 paper

NM_000051.4

p.K116delFs

c.348delA

1 paper

NM_000051.4

p.K116delFs

c.347_348delAA

1 paper

NM_000051.4

p.L115L

c.345A>T

3 papers

NM_000051.4

p.R114K

c.341G>A

1 paper

NM_000051.4

p.R114_L115delFs

c.342_345del4

1 paper

NM_000051.4

p.K116fs

c.346_347fs

1 paper

NM_000051.4

p.K116Q

c.346A>C

1 paper

NM_000051.4

p.R114G

c.340A>G