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.S712T

c.2134T>A

Surrounding Variants

6 papers

NM_000051.4

p.S712*

c.2135C>A

7 papers

NM_000051.4

p.S712*

c.2135C>G

1 paper

NM_000051.4

p.S712L

c.2135C>T

1 paper

NM_000051.4

p.S712_V716delFs

c.2135_2147del13

1 paper

NM_000051.4

p.N711T

c.2132A>C

1 paper

NM_000051.4

p.N711_S712delFs

c.2133_2134delTT

5 papers

NM_000051.4

p.N711D

c.2131A>G

3 papers

NM_000051.4

p.T714delFs

c.2140delA

1 paper

NM_000051.4

p.E713fs

c.2137_2138fs

1 paper

NM_000051.4

p.E713G

c.2138A>G

2 papers

NM_000051.4

p.T710K

c.2129C>A

1 paper

NM_000051.4

p.N711insFs

c.2132dupA