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.E602delFs

c.1805_1806delCT

Surrounding Variants

1 paper

NM_017573.5

p.E602fs

c.1804_1805fs

1 paper

NM_017573.5

p.A595E

c.1784C>A

2 papers

NM_017573.5

p.P586L

c.1757C>T

1 paper

NM_017573.5

p.R585W

c.1753C>T

1 paper

NM_017573.5

p.R570H

c.1709G>A

1 paper

NM_017573.5

p.G566Splc

c.1697-146G>A

1 paper

NM_017573.5

p.A643A

c.1929G>A

1 paper

NM_017573.5

p.C649F

c.1946G>T

1 paper

NM_017573.5

p.Q680*

c.2038C>T

1 paper

NM_017573.5

p.H703R

c.2108A>G

1 paper

NM_017573.5

p.L724V

c.2170C>G

1 paper

NM_017573.5

p.M729I

c.2187G>T