Varaico: Literature-Extracted Genetic Variants

Gene:PRDM12
Variant:p.N174K

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
Selected Variant
1 paper
NM_021619.3
p.N174K
c.522C>A
Surrounding Variants
1 paper
NM_021619.3
p.N174K
c.522C>G
6 papers
NM_021619.3
p.E172D
c.516G>C
6 papers
NM_021619.3
p.E172D
c.516G>T
1 paper
NM_021619.3
p.N169N
c.507C>T
1 paper
NM_021619.3
p.R168H
c.503G>A
4 papers
NM_021619.3
p.R168C
c.502C>T
1 paper
NM_021619.3
p.G181A
c.542G>C
3 papers
NM_021619.3
p.W160C
c.480G>C
3 papers
NM_021619.3
p.W160C
c.480G>T
1 paper
NM_021619.3
p.W160R
c.478T>A
1 paper
NM_021619.3
p.W160R
c.478T>C
1 paper
NM_021619.3
p.E190fs
c.568_569fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."