Varaico: Literature-Extracted Genetic Variants

Gene:PRDM12
Variant:p.L347delins

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
4 papers
NM_021619.3
p.L347delins
c.1040delinsTCGC
Surrounding Variants
1 paper
NM_021619.3
p.A353_A359ins2
c.1059_1076dup18
1 paper
NM_021619.3
p.A352_A359ins2
c.1056_1076dup21
2 papers
NM_021619.3
p.L347_A352del0
c.1041_1055del15
1 paper
NM_021619.3
p.L347_A348insA
c.1039_1043ins3
1 paper
NM_021619.3
p.H343_P345ins1
c.1028_1033dup6
1 paper
NM_021619.3
p.L337fs
c.1009_1010fs
1 paper
NM_021619.3
p.A336insFs
c.1007_1008insGT
1 paper
NM_021619.3
p.G313V
c.938G>T
3 papers
NM_021619.3
p.H289L
c.866A>T
1 paper
NM_021619.3
p.C276_F280ins1
c.826_840dup15
3 papers
NM_021619.3
p.T266P
c.796A>C
1 paper
NM_021619.3
p.R263H
c.788G>A
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