Varaico: Literature-Extracted Genetic Variants

SETDB2

42 papers

RefSeq Summary

This gene encodes a member of a family of proteins that contain a methyl-CpG-binding domain (MBD) and a SET domain and function as histone methyltransferases. This protein is recruited to heterochroma...

Pfam Domains

MBDaa 159–232UCSCMethyl-CpG binding domain

Pre-SETaa 247–359UCSCPre-SET motif

SETaa 378–519UCSCSET domain

SETaa 540–694UCSCSET domain

Gene Aliases

HGNC Name

SET domain bifurcated histone lysine methyltransferase 2

HGNC Alias Symbols

CLLD8; CLLL8; KMT1F

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001160308.3

p.G2insFs

c.4_5insCT

Surrounding Variants

1 paper

NM_001160308.3

p.M1insFs

c.2_3ins5

1 paper

NM_001160308.3

p.Q33*

c.97C>T

1 paper

NM_001160308.3

p.S43P

c.127T>C

1 paper

NM_001160308.3

p.D70Splc

c.208+1G>A