Varaico: Literature-Extracted Genetic Variants

Gene:PRDM12
Variant:p.S58fs

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.S58fs
c.172_173fs
Surrounding Variants
2 papers
NM_021619.3
p.S58fs
c.172_173fs
1 paper
NM_021619.3
p.S58insFs
c.172dupA
2 papers
NM_021619.3
p.H55N
c.163C>A
1 paper
NM_021619.3
p.V44_E47del0
c.131_139del9
4 papers
NM_021619.3
p.D31Y
c.91G>T
1 paper
NM_021619.3
p.A23T
c.67G>A
1 paper
NM_021619.3
p.K18M
c.53A>T
1 paper
NM_021619.3
p.S4T
c.10T>A
3 papers
NM_021619.3
p.E75Splc
c.224-2A>G
1 paper
NM_021619.3
p.E75Splc
c.224-2A>T
3 papers
NM_021619.3
p.I102N
c.305T>A
1 paper
NM_021619.3
p.M114V
c.340A>G
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