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

1–12 of 427 variants

4 papers

NM_001366418.1

p.G9A

c.26G>C

4 papers

NM_001366418.1

p.S529L

c.1586C>T

3 papers

NM_001366418.1

p.A266T

c.796G>A

3 papers

NM_001366418.1

p.T977I

c.2930C>T

2 papers

NM_001366418.1

p.E21D

c.63G>C

2 papers

NM_001366418.1

p.E21D

c.63G>T

2 papers

NM_001366418.1

p.G34V

c.101G>T

2 papers

NM_001366418.1

p.R41W

c.121C>T

2 papers

NM_001366418.1

p.E46K

c.136G>A

2 papers

NM_001366418.1

p.M51T

c.152T>C

2 papers

NM_001366418.1

p.C53F

c.158G>T

2 papers

NM_001366418.1

p.T144I

c.431C>T