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

2 papers

NM_000051.4

p.I1713V

c.5137A>G

Surrounding Variants

1 paper

NM_000051.4

p.F1712L

c.5136C>A

1 paper

NM_000051.4

p.F1712L

c.5136C>G

1 paper

NM_000051.4

p.I1713M

c.5139A>G

2 papers

NM_000051.4

p.M1714V

c.5140A>G

1 paper

NM_000051.4

p.F1712I

c.5134T>A

1 paper

NM_000051.4

p.F1712L

c.5134T>C

1 paper

NM_000051.4

p.M1714K

c.5141T>A

1 paper

NM_000051.4

p.M1714R

c.5141T>G

2 papers

NM_000051.4

p.T1711N

c.5132C>A

1 paper

NM_000051.4

p.T1711S

c.5132C>G

2 papers

NM_000051.4

p.T1711I

c.5132C>T

1 paper

NM_000051.4

p.T1711S

c.5131A>T