Varaico: Literature-Extracted Genetic Variants

SETDB1

221 papers

RefSeq Summary

This gene encodes a histone methyltransferase which regulates histone methylation, gene silencing, and transcriptional repression. This gene has been identified as a target for treatment in Huntington...

Pfam Domains

DUF5604aa 193–229UCSCDomain of unknown function (DUF5604)

DUF5604aa 193–250UCSCDomain of unknown function (DUF5604)

Tudor_5aa 258–309UCSCHistone methyltransferase Tudor domain 1

Tudor_4aa 348–397UCSCHistone methyltransferase Tudor domain

MBDaa 595–669UCSCMethyl-CpG binding domain

Gene Aliases

HGNC Name

SET domain bifurcated histone lysine methyltransferase 1

HGNC Alias Symbols

KG1T; KIAA0067; ESET; KMT1E; TDRD21

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001366418.1

p.V884L

c.2650G>T

Surrounding Variants

1 paper

NM_001366418.1

p.G883S

c.2647G>A

1 paper

NM_001366418.1

p.S882G

c.2644A>G

1 paper

NM_001366418.1

p.E890V

c.2669A>T

1 paper

NM_001366418.1

p.C877fs

c.2629_2630fs

1 paper

NM_001366418.1

p.A875delFs

c.2624delC

1 paper

NM_001145415.2

p.G869E

c.2606G>A

1 paper

NM_001366418.1

p.D904del1

c.2710_2711delGAT

1 paper

NM_001366418.1

p.D904G

c.2711A>G

1 paper

NM_001366418.1

p.D908G

c.2723A>G

1 paper

NM_001145415.2

p.C911F

c.2732G>T

1 paper

NM_001366418.1

p.K913R

c.2738A>G

1 paper

NM_001366418.1

p.S918G

c.2752A>G