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

Selected Variant

1 paper

NM_004716.4

p.N158H

c.472A>C

Surrounding Variants

4 papers

NM_004716.4

p.R159*

c.475C>T

1 paper

NM_004716.4

p.E173K

c.517G>A

1 paper

NM_004716.4

p.T182M

c.545C>T

1 paper

NM_004716.4

p.D188G

c.563A>G

1 paper

NM_004716.4

p.T193I

c.578C>T

1 paper

NM_004716.4

p.I194M

c.582C>G

1 paper

NM_004716.4

p.P199S

c.595C>T

1 paper

NM_004716.4

p.P203A

c.607C>G

1 paper

NM_004716.4

p.G205S

c.613G>A

1 paper

NM_004716.4

p.S206R

c.616A>C

1 paper

NM_004716.4

p.S206R

c.618C>G

1 paper

NM_004716.4

p.S206R

c.618C>A