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.D11E

c.33T>G

Surrounding Variants

1 paper

NM_001366418.1

p.D11E

c.33T>A

1 paper

NM_001366418.1

p.D11V

c.32A>T

1 paper

NM_001366418.1

p.A12S

c.34G>T

1 paper

NM_001366418.1

p.D11N

c.31G>A

1 paper

NM_001366418.1

p.D11H

c.31G>C

1 paper

NM_001366418.1

p.L10F

c.30G>C

1 paper

NM_001366418.1

p.L10F

c.30G>T

4 papers

NM_001366418.1

p.G9A

c.26G>C

1 paper

NM_001366418.1

p.A15T

c.43G>A

1 paper

NM_001366418.1

p.T16A

c.46A>G

1 paper

NM_001366418.1

p.C7S

c.20G>C

1 paper

NM_001366418.1

p.C7S

c.19T>A