Varaico: Literature-Extracted Genetic Variants

Gene:PRDM8

PRDM8

64 papers

RefSeq Summary

This gene encodes a protein that belongs to a conserved family of histone methyltransferases that predominantly act as negative regulators of transcription. The encoded protein contains an N-terminal ...

Pfam Domains

PRDM2_PRaa 17–140UCSCPR domain zinc finger protein 2, PR domain
zf-C2H2_4aa 666–689UCSCC2H2-type zinc finger

Gene Aliases

HGNC Name

PR/SET domain 8

HGNC Alias Symbol

KMT8D

Papers
RefSeq ID
Protein change
DNA change
1–12 of 59 variants
6 papers
NM_001099403.2
p.F261L
c.781T>C
5 papers
NM_001099403.2
p.Q217del1
c.649_650delCAG
5 papers
NM_001099403.2
p.F261L
c.783C>A
5 papers
NM_001099403.2
p.F261L
c.783C>G
3 papers
NM_001099403.2
p.Q217E
c.649C>G
3 papers
NM_001099403.2
p.L601L
c.1801T>C
3 papers
NM_001099403.2
p.K649_E651del3
c.1945_1952del9
2 papers
NM_001099403.2
p.L86insFs
c.256dupC
2 papers
NM_001099403.2
p.Q217ins0
c.649_651dupCAG
1 paper
NM_001099403.2
p.D3fs
c.7_8fs
1 paper
NM_001099403.2
p.R8G
c.22C>G
1 paper
NM_001099403.2
p.A17G
c.50C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."