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

2 papers

NM_002569.4

p.V72L

c.214G>C

Surrounding Variants

1 paper

NM_002569.4

p.G71V

c.212G>T

1 paper

NM_002569.4

p.R70R

c.210A>T

1 paper

NM_002569.4

p.G71delFs

c.211_212delGG

1 paper

NM_002569.4

p.T73K

c.218C>A

1 paper

NM_002569.4

p.R70Q

c.209G>A

1 paper

NM_002569.4

p.R70*

c.208C>T

2 papers

NM_002569.4

p.H69L

c.206A>T

1 paper

NM_002569.4

p.R75G

c.223C>G

1 paper

NM_002569.4

p.R75W

c.223C>T

2 papers

NM_002569.4

p.R75Q

c.224G>A

7 papers

NM_002569.4

p.H69del1

c.205_206delCAT

1 paper

NM_002569.4

p.W68*

c.203G>A