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.S421R

c.1261A>C

Surrounding Variants

1 paper

NM_002569.4

p.S421R

c.1263C>A

1 paper

NM_002569.4

p.S421R

c.1263C>G

1 paper

NM_002569.4

p.H422delFs

c.1265_1266delAC

1 paper

NM_002569.4

p.Y424C

c.1271A>G

3 papers

NM_002569.4

p.A431T

c.1291G>A

1 paper

NM_002569.4

p.A431P

c.1291G>C

1 paper

NM_002569.4

p.V435V

c.1305G>A

1 paper

NM_002569.4

p.A436T

c.1306G>A

1 paper

NM_002569.4

p.N440D

c.1318A>G

50 papers

NM_002569.4

p.N440K

c.1320T>A

50 papers

NM_002569.4

p.N440K

c.1320T>G

1 paper

NM_002569.4

p.W441_T442ins5

c.1321_1325ins15