Varaico: Literature-Extracted Genetic Variants

Gene:FURIN
Variant:p.K28_V29insFs

FURIN

795 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 33–107UCSCPeptidase S8 pro-domain
Peptidase_S8aa 144–427UCSCSubtilase family
P_proproteinaa 484–570UCSCProprotein convertase P-domain

Gene Aliases

HGNC Name

furin, paired basic amino acid cleaving enzyme

HGNC Previous Symbols

PCSK3; FUR; PACE

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002569.4
p.K28_V29insFs
c.84_85insC
Surrounding Variants
1 paper
NM_002569.4
p.K28T
c.83A>C
1 paper
NM_002569.4
p.V29Fs
c.86delinsCCFs
1 paper
NM_002569.4
p.F30I
c.88T>A
1 paper
NM_002569.4
p.Q27K
c.79C>A
1 paper
NM_002569.4
p.Q27*
c.79C>T
1 paper
NM_002569.4
p.F30Y
c.89T>A
1 paper
NM_002569.4
p.T31A
c.91A>G
1 paper
NM_002569.4
p.T31I
c.92C>T
1 paper
NM_002569.4
p.G26R
c.76G>C
1 paper
NM_002569.4
p.Q25H
c.75G>C
1 paper
NM_002569.4
p.T33A
c.97A>G
1 paper
NM_002569.4
p.T33T
c.99G>A
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