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

3 papers

NM_000051.4

p.C117Y

c.350G>A

Surrounding Variants

2 papers

NM_000051.4

p.C117F

c.350G>T

2 papers

NM_000051.4

p.C117G

c.349T>G

1 paper

NM_000051.4

p.C117fs

c.349_350fs

1 paper

NM_000051.4

p.K116N

c.348A>C

2 papers

NM_000051.4

p.K116K

c.348A>G

2 papers

NM_000051.4

p.K116N

c.348A>T

1 paper

NM_000051.4

p.C117delFs

c.349delT

1 paper

NM_000051.4

p.Q118E

c.352C>G

6 papers

NM_000051.4

p.Q118*

c.352C>T

1 paper

NM_000051.4

p.K116insFs

c.347_348insT

1 paper

NM_000051.4

p.Q118R

c.353A>G

2 papers

NM_000051.4

p.K116I

c.347A>T