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.E191V

c.572A>T

Surrounding Variants

1 paper

NM_001366418.1

p.G190*

c.568G>T

1 paper

NM_001366418.1

p.K194E

c.580A>G

1 paper

NM_001366418.1

p.M188T

c.563T>C

1 paper

NM_001366418.1

p.G196_D197ins0

c.587_589dupGTG

1 paper

NM_001366418.1

p.L185S

c.554T>C

1 paper

NM_001366418.1

p.T184I

c.551C>T

1 paper

NM_001366418.1

p.T184A

c.550A>G

1 paper

NM_001366418.1

p.V200I

c.598G>A

1 paper

NM_001366418.1

p.R203*

c.607C>T

1 paper

NM_001366418.1

p.R203Q

c.608G>A

1 paper

NM_001366418.1

p.G183Splc

c.548-13G>A

1 paper

NM_001366418.1

p.I204V

c.610A>G