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.E2977fs

c.8929_8930fs

Surrounding Variants

2 papers

NM_000051.4

p.E2977fs

c.8929_8930fs

2 papers

NM_000051.4

p.E2977insFs

c.8929_8930insT

1 paper

NM_000051.4

p.E2977*

c.8929G>T

1 paper

NM_000051.4

p.T2978delFs

c.8932delA

1 paper

NM_000051.4

p.T2978fs

c.8932_8933fs

1 paper

NM_000051.4

p.T2978fs

c.8932_8933fs

3 papers

NM_000051.4

p.T2978_E2979delFs

c.8934_8935delTG

2 papers

NM_000051.4

p.E2975_D2976insFs

c.8925_8928dup4

2 papers

NM_000051.4

p.E2975K

c.8923G>A

2 papers

NM_000051.4

p.E2979fs

c.8935_8936fs

1 paper

NM_000051.4

p.P2974P

c.8922G>A

28 papers

NM_000051.4

p.P2974L

c.8921C>T