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_001145415.2

p.K674fs

c.2020_2021fs

Surrounding Variants

1 paper

NM_001145415.2

p.K674delFs

c.2020delA

1 paper

NM_001366418.1

p.Q672*

c.2014C>T

1 paper

NM_001366418.1

p.Y678H

c.2032T>C

1 paper

NM_001366418.1

p.G650G

c.1950C>G

1 paper

NM_001366418.1

p.T700S

c.2098A>T

1 paper

NM_001366418.1

p.P703L

c.2108C>T

1 paper

NM_001366418.1

p.T638A

c.1912A>G

1 paper

NM_001366418.1

p.R637Q

c.1910G>A

1 paper

NM_001366418.1

p.L636V

c.1906C>G

1 paper

NM_001366418.1

p.R616H

c.1847G>A

1 paper

NM_001366418.1

p.R615Q

c.1844G>A

1 paper

NM_001366418.1

p.R615W

c.1843C>T