Varaico: Literature-Extracted Genetic Variants

Gene:PCSK6
Variant:p.T964M

PCSK6

86 papers

RefSeq Summary

This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branc...

Pfam Domains

S8_pro-domainaa 73–149UCSCPeptidase S8 pro-domain
Peptidase_S8aa 196–479UCSCSubtilase family
P_proproteinaa 539–624UCSCProprotein convertase P-domain
P_proproteinaa 539–629UCSCProprotein convertase P-domain
GF_recep_IVaa 694–812UCSCGrowth factor receptor domain IV
PLACaa 935–966UCSCPLAC (protease and lacunin) domain

Gene Aliases

HGNC Name

proprotein convertase subtilisin/kexin type 6

HGNC Previous Symbol

PACE4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_002570.5
p.T964M
c.2891C>T
Surrounding Variants
1 paper
NM_002570.5
p.S912N
c.2735G>A
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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."