Varaico: Literature-Extracted Genetic Variants

Gene:FURIN
Variant:p.G476A

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.G476A
c.1427G>C
Surrounding Variants
2 papers
NM_002569.4
p.G476S
c.1426G>A
1 paper
NM_002569.4
p.T472T
c.1416C>T
1 paper
NM_002569.4
p.R483W
c.1447C>T
2 papers
NM_002569.4
p.R483Q
c.1448G>A
1 paper
NM_002569.4
p.R468Q
c.1403G>A
1 paper
NM_002569.4
p.R468W
c.1402C>T
1 paper
NM_002569.4
p.R464R
c.1392G>T
1 paper
NM_002569.4
p.R464W
c.1390C>T
1 paper
NM_002569.4
p.A489V
c.1466C>T
4 papers
NM_002569.4
p.T492I
c.1475C>T
9 papers
NM_002569.4
p.S494P
c.1480T>C
1 paper
NM_002569.4
p.R497S
c.1489C>A
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