Varaico: Literature-Extracted Genetic Variants

PCSK5

198 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 38–114UCSCPeptidase S8 pro-domain

Peptidase_S8aa 162–445UCSCSubtilase family

P_proproteinaa 505–595UCSCProprotein convertase P-domain

GF_recep_IVaa 635–757UCSCGrowth factor receptor domain IV

Gene Aliases

HGNC Name

proprotein convertase subtilisin/kexin type 5

HGNC Alias Symbols

PC5; PC6; SPC6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001372043.1

p.L588L

c.1764G>A

Surrounding Variants

1 paper

NM_001372043.1

p.G586D

c.1757G>A

1 paper

NM_001372043.1

p.S592A

c.1774T>G

1 paper

NM_001372043.1

p.N607S

c.1820A>G

1 paper

NM_001372043.1

p.F609Fs

c.1825delinsTCFs

1 paper

NM_001372043.1

p.P610L

c.1829C>T

1 paper

NM_001372043.1

p.G586Splc

c.1757-60T>C

1 paper

NM_001372043.1

p.F615L

c.1843T>C

1 paper

NM_001372043.1

p.F615L

c.1845C>A

1 paper

NM_001372043.1

p.F615L

c.1845C>G

1 paper

NM_001372043.1

p.D622V

c.1865A>T

1 paper

NM_001372043.1

p.E630K

c.1888G>A

1 paper

NM_001372043.1

p.E630Q

c.1888G>C