Varaico: Literature-Extracted Genetic Variants

Gene:PRDM8
Variant:p.G488R

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.G488R
c.1462G>C
Surrounding Variants
1 paper
NM_001099403.2
p.G488R
c.1462G>A
1 paper
NM_001099403.2
p.S509L
c.1526C>T
1 paper
NM_001099403.2
p.R456K
c.1367G>A
1 paper
NM_001099403.2
p.D530N
c.1588G>A
1 paper
NM_001099403.2
p.P544R
c.1631C>G
1 paper
NM_001099403.2
p.G421ins0
c.1261_1263dupGGC
1 paper
NM_001099403.2
p.G565D
c.1694G>A
1 paper
NM_001099403.2
p.G567A
c.1700G>C
1 paper
NM_001099403.2
p.L569L
c.1707G>A
1 paper
NM_001099403.2
p.L576Q
c.1727T>A
1 paper
NM_001099403.2
p.A393T
c.1177G>A
1 paper
NM_001099403.2
p.A593_G599del0
c.1779_1796del18
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