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

3 papers

NM_001366418.1

p.A266T

c.796G>A

Surrounding Variants

1 paper

NM_001366418.1

p.A266A

c.798C>T

1 paper

NM_001366418.1

p.K267R

c.800A>G

1 paper

NM_001366418.1

p.V264G

c.791T>G

1 paper

NM_001366418.1

p.R263Q

c.788G>A

1 paper

NM_001366418.1

p.R263W

c.787C>T

1 paper

NM_001366418.1

p.N272S

c.815A>G

1 paper

NM_001366418.1

p.K257N

c.771G>C

1 paper

NM_001366418.1

p.K257N

c.771G>T

1 paper

NM_001366418.1

p.V274D

c.821T>A

1 paper

NM_001366418.1

p.Y277C

c.830A>G

2 papers

NM_001366418.1

p.P254H

c.761C>A

1 paper

NM_001366418.1

p.P254L

c.761C>T