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.D2822N

c.8464G>A

Surrounding Variants

1 paper

NM_000051.4

p.M2821insFs

c.8462_8463insT

1 paper

NM_000051.4

p.M2821L

c.8461A>C

1 paper

NM_000051.4

p.M2821L

c.8461A>T

2 papers

NM_000051.4

p.F2820L

c.8460C>A

2 papers

NM_000051.4

p.F2820L

c.8460C>G

2 papers

NM_000051.4

p.M2821del1

c.8461_8463delATG

2 papers

NM_000051.4

p.D2822_V2823delFs

c.8464_8467del4

2 papers

NM_000051.4

p.V2823G

c.8468T>G

2 papers

NM_000051.4

p.F2820L

c.8458T>C

7 papers

NM_000051.4

p.C2824Y

c.8471G>A

1 paper

NM_000051.4

p.C2824C

c.8472C>T

2 papers

NM_000051.4

p.N2826insFs

c.8476_8477dupAA