Varaico: Literature-Extracted Genetic Variants

Gene:PRDM12

PRDM12

51 papers

RefSeq Summary

This gene encodes a transcriptional regulator of sensory neuronal specification that plays a critical role in pain perception. The encoded protein contains an N-terminal PRDI-BF1 and RIZ homology (PR)...

Pfam Domains

SETaa 99–203UCSCSET domain
zf-C2H2aa 243–265UCSCZinc finger, C2H2 type
zf-C2H2aa 271–293UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

PR/SET domain 12

HGNC Alias Symbol

PFM9

Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
6 papers
NM_021619.3
p.E172D
c.516G>C
6 papers
NM_021619.3
p.E172D
c.516G>T
4 papers
NM_021619.3
p.D31Y
c.91G>T
4 papers
NM_021619.3
p.R168C
c.502C>T
4 papers
NM_021619.3
p.L347delins
c.1040delinsTCGC
3 papers
NM_021619.3
p.E75Splc
c.224-2A>G
3 papers
NM_021619.3
p.I102N
c.305T>A
3 papers
NM_021619.3
p.D151N
c.451G>A
3 papers
NM_021619.3
p.W160C
c.480G>C
3 papers
NM_021619.3
p.W160C
c.480G>T
3 papers
NM_021619.3
p.E190_M191Splc
c.570+2T>G
3 papers
NM_021619.3
p.T266P
c.796A>C
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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."