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.Y249*

c.747T>G

Surrounding Variants

1 paper

NM_001366418.1

p.Y249*

c.747T>A

1 paper

NM_001366418.1

p.Y249C

c.746A>G

1 paper

NM_001366418.1

p.D250E

c.750T>A

1 paper

NM_001366418.1

p.D250E

c.750T>G

1 paper

NM_001366418.1

p.Y251ins2

c.752_753ins6

1 paper

NM_001366418.1

p.Y251C

c.752A>G

1 paper

NM_001366418.1

p.I247V

c.739A>G

1 paper

NM_001366418.1

p.N245fs

c.733_734fs

2 papers

NM_001366418.1

p.P254H

c.761C>A

1 paper

NM_001366418.1

p.P254L

c.761C>T

1 paper

NM_001366418.1

p.G244E

c.731G>A

1 paper

NM_001366418.1

p.S243L

c.728C>T