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.N711insFs

c.2132dupA

Surrounding Variants

2 papers

NM_000051.4

p.T710K

c.2129C>A

1 paper

NM_000051.4

p.N711insFs

c.2131_2132dupAA

1 paper

NM_000051.4

p.N711delFs

c.2132delA

1 paper

NM_000051.4

p.T710A

c.2128A>G

1 paper

NM_000051.4

p.T710fs

c.2128_2129fs

5 papers

NM_000051.4

p.N711D

c.2131A>G

9 papers

NM_000051.4

p.I709I

c.2127T>C

4 papers

NM_000051.4

p.I709M

c.2127T>G

1 paper

NM_000051.4

p.T710delFs

c.2128delA

1 paper

NM_000051.4

p.N711T

c.2132A>C

1 paper

NM_000051.4

p.N711_S712delFs

c.2133_2134delTT

2 papers

NM_000051.4

p.I709N

c.2126T>A