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

2 papers

NM_001366418.1

p.T144I

c.431C>T

Surrounding Variants

1 paper

NM_001366418.1

p.P145A

c.433C>G

1 paper

NM_001366418.1

p.P145S

c.433C>T

1 paper

NM_001366418.1

p.D147V

c.440A>T

1 paper

NM_001366418.1

p.A140V

c.419C>T

1 paper

NM_001366418.1

p.D139G

c.416A>G

1 paper

NM_001366418.1

p.K149_L150Splc

c.447+1G>A

1 paper

NM_001366418.1

p.R151H

c.452G>A

1 paper

NM_001366418.1

p.M168V

c.502A>G

1 paper

NM_001366418.1

p.M168delFs

c.504delG

1 paper

NM_001366418.1

p.N172S

c.515A>G

1 paper

NM_001366418.1

p.N172K

c.516C>A

1 paper

NM_001366418.1

p.N172K

c.516C>G