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.P950A

c.2848C>G

Surrounding Variants

2 papers

NM_001366418.1

p.P950fs

c.2848_2849fs

2 papers

NM_001366418.1

p.P950S

c.2848C>T

1 paper

NM_001366418.1

p.P950H

c.2849C>A

1 paper

NM_001366418.1

p.P950R

c.2849C>G

1 paper

NM_001366418.1

p.P950delFs

c.2849delC

1 paper

NM_001145415.2

p.S947C

c.2840C>G

1 paper

NM_001366418.1

p.T944S

c.2831C>G

1 paper

NM_001366418.1

p.N938K

c.2814C>A

1 paper

NM_001366418.1

p.N938K

c.2814C>G

1 paper

NM_001366418.1

p.P961L

c.2882C>T

1 paper

NM_001366418.1

p.R930S

c.2790G>C

1 paper

NM_001366418.1

p.P972L

c.2915C>T