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.Q2397*

c.7189C>T

Surrounding Variants

1 paper

NM_000051.4

p.Q2397E

c.7189C>G

2 papers

NM_000051.4

p.Q2397R

c.7190A>G

1 paper

NM_000051.4

p.Q2397L

c.7190A>T

1 paper

NM_000051.4

p.Q2397Q

c.7191A>G

26 papers

NM_000051.4

p.T2396S

c.7187C>G

1 paper

NM_000051.4

p.T2396I

c.7187C>T

24 papers

NM_000051.4

p.T2396S

c.7186A>T

1 paper

NM_000051.4

p.Y2398C

c.7193A>G

1 paper

NM_000051.4

p.D2395G

c.7184A>G

10 papers

NM_000051.4

p.D2395V

c.7184A>T

2 papers

NM_000051.4

p.Q2399K

c.7195C>A

3 papers

NM_000051.4

p.Q2399*

c.7195C>T