Varaico: Literature-Extracted Genetic Variants

Gene:PRDM8
Variant:p.R8G

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
Selected Variant
1 paper
NM_001099403.2
p.R8G
c.22C>G
Surrounding Variants
1 paper
NM_001099403.2
p.D3fs
c.7_8fs
1 paper
NM_001099403.2
p.A17G
c.50C>G
1 paper
NM_001099403.2
p.D34N
c.100G>A
1 paper
NM_001099403.2
p.E37K
c.109G>A
2 papers
NM_001099403.2
p.L86insFs
c.256dupC
1 paper
NM_001099403.2
p.L86delFs
c.256delC
1 paper
NM_001099403.2
p.Q93*
c.277C>T
1 paper
NM_001099403.2
p.E100D
c.300G>C
1 paper
NM_001099403.2
p.E100D
c.300G>T
1 paper
NM_001099403.2
p.N102D
c.304A>G
1 paper
NM_001099403.2
p.R118C
c.352C>T
1 paper
NM_001099403.2
p.R144K
c.431G>A
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