Varaico: Literature-Extracted Genetic Variants

PCSK4

103 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 37–113UCSCPeptidase S8 pro-domain

Peptidase_S8aa 149–432UCSCSubtilase family

P_proproteinaa 489–575UCSCProprotein convertase P-domain

Gene Aliases

HGNC Name

proprotein convertase subtilisin/kexin type 4

HGNC Alias Symbols

PC4; SPC5; DKFZp434B217; MGC34749

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017573.5

p.R473W

c.1417A>T

Surrounding Variants

1 paper

NM_017573.5

p.R487delFs

c.1460delC

1 paper

NM_017573.5

p.Q493E

c.1477C>G

1 paper

NM_017573.5

p.T497M

c.1490C>T

1 paper

NM_017573.5

p.Q460H

c.1380G>T

1 paper

NM_017573.5

p.Q460H

c.1380G>C

1 paper

NM_017573.5

p.A456A

c.1368C>T

1 paper

NM_017573.5

p.A456V

c.1367C>T

1 paper

NM_017573.5

p.T445S

c.1334C>G

1 paper

NM_017573.5

p.T445S

c.1333A>T

1 paper

NM_017573.5

p.R444C

c.1330C>T

1 paper

NM_017573.5

p.D435Y

c.1303G>T

1 paper

NM_017573.5

p.V425delFs

c.1273delC