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.G6R

c.16G>A

Surrounding Variants

1 paper

NM_001366418.1

p.G6R

c.16G>C

1 paper

NM_001366418.1

p.P5S

c.13C>T

1 paper

NM_001366418.1

p.C7S

c.19T>A

1 paper

NM_001366418.1

p.C7S

c.20G>C

1 paper

NM_001366418.1

p.L4H

c.11T>A

1 paper

NM_001366418.1

p.L4P

c.11T>C

1 paper

NM_001366418.1

p.L4F

c.10C>T

1 paper

NM_001366418.1

p.S3F

c.8C>T

4 papers

NM_001366418.1

p.G9A

c.26G>C

1 paper

NM_001366418.1

p.S2S

c.6T>A

1 paper

NM_001366418.1

p.S2F

c.5C>T

1 paper

NM_001366418.1

p.L10F

c.30G>C