Varaico: Literature-Extracted Genetic Variants

PCSK7

169 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 53–141UCSCPeptidase S8 pro-domain

Peptidase_S8aa 178–465UCSCSubtilase family

P_proproteinaa 525–612UCSCProprotein convertase P-domain

Gene Aliases

HGNC Name

proprotein convertase subtilisin/kexin type 7

HGNC Alias Symbols

PC7; PC8; LPC; SPC7

Papers

RefSeq ID

Protein change

DNA change

1–12 of 132 variants

9 papers

NM_004716.4

p.R504H

c.1511G>A

4 papers

NM_004716.4

p.R159*

c.475C>T

4 papers

NM_004716.4

p.S550R

c.1648A>C

4 papers

NM_004716.4

p.S550R

c.1650T>G

4 papers

NM_004716.4

p.S550R

c.1650T>A

4 papers

NM_004716.4

p.R560G

c.1678C>G

4 papers

NM_004716.4

p.R711W

c.2131C>T

3 papers

NM_004716.4

p.V143F

c.427G>T

3 papers

NM_004716.4

p.Q783E

c.2347C>G

2 papers

NM_004716.4

p.P14L

c.41C>T

2 papers

NM_004716.4

p.P52L

c.155C>T

2 papers

NM_004716.4

p.A74V

c.221C>T