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.P654S

c.1960C>T

Surrounding Variants

2 papers

NM_002569.4

p.P654L

c.1961C>T

1 paper

NM_002569.4

p.Q652delFs

c.1956delG

1 paper

NM_002569.4

p.T657R

c.1970C>G

1 paper

NM_002569.4

p.D658H

c.1972G>C

1 paper

NM_002569.4

p.S664R

c.1990A>C

1 paper

NM_002569.4

p.H665Y

c.1993C>T

1 paper

NM_002569.4

p.A642T

c.1924G>A

1 paper

NM_002569.4

p.C641F

c.1922G>T

1 paper

NM_002569.4

p.L668S

c.2003T>C

1 paper

NM_002569.4

p.A638D

c.1913C>A

3 papers

NM_002569.4

p.R637Q

c.1910G>A

1 paper

NM_002569.4

p.I636V

c.1906A>G