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.L48P

c.143T>C

Surrounding Variants

1 paper

NM_001366418.1

p.E47A

c.140A>C

2 papers

NM_001366418.1

p.E46K

c.136G>A

1 paper

NM_001366418.1

p.K50N

c.150G>C

1 paper

NM_001366418.1

p.K50N

c.150G>T

2 papers

NM_001366418.1

p.M51T

c.152T>C

1 paper

NM_001366418.1

p.D52G

c.155A>G

2 papers

NM_001366418.1

p.C53F

c.158G>T

1 paper

NM_001366418.1

p.H42Y

c.124C>T

1 paper

NM_001366418.1

p.Q55R

c.164A>G

1 paper

NM_001366418.1

p.R41Q

c.122G>A

1 paper

NM_001366418.1

p.R41G

c.121C>G

2 papers

NM_001366418.1

p.R41W

c.121C>T