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.R558W

c.1672C>T

Surrounding Variants

1 paper

NM_001366418.1

p.P563R

c.1688C>G

1 paper

NM_001366418.1

p.P549R

c.1646C>G

1 paper

NM_001366418.1

p.P549T

c.1645C>A

1 paper

NM_001366418.1

p.P549insFs

c.1646dupC

1 paper

NM_001366418.1

p.A548E

c.1643C>A

1 paper

NM_001366418.1

p.L543V

c.1627C>G

1 paper

NM_001366418.1

p.A539V

c.1616C>T

1 paper

NM_001366418.1

p.S536C

c.1607C>G

1 paper

NM_001366418.1

p.T582A

c.1744A>G

4 papers

NM_001366418.1

p.S529L

c.1586C>T

1 paper

NM_001366418.1

p.L605L

c.1815A>G

1 paper

NM_001366418.1

p.R615W

c.1843C>T