Varaico: Literature-Extracted Genetic Variants

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.P79T

c.235C>A

Surrounding Variants

1 paper

NM_002569.4

p.P79R

c.236C>G

1 paper

NM_002569.4

p.H80insFs

c.238_239insG

11 papers

NM_002569.4

p.R81C

c.241C>T

4 papers

NM_002569.4

p.L77L

c.229C>T

1 paper

NM_002569.4

p.P82_H84del0

c.244_252del9

1 paper

NM_002569.4

p.P82A

c.244C>G

2 papers

NM_002569.4

p.R75Q

c.224G>A

1 paper

NM_002569.4

p.R75G

c.223C>G

1 paper

NM_002569.4

p.R75W

c.223C>T

1 paper

NM_002569.4

p.H84_S85insC

c.250_254ins3

1 paper

NM_002569.4

p.T73K

c.218C>A

1 paper

NM_002569.4

p.H84Q

c.252C>A