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.P203A

c.607C>G

Surrounding Variants

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

1 paper

NM_004716.4

p.P214S

c.640C>T

1 paper

NM_004716.4

p.H219Y

c.655C>T

1 paper

NM_004716.4

p.V222M

c.664G>A

1 paper

NM_004716.4

p.A233E

c.698C>A

1 paper

NM_004716.4

p.N242K

c.726C>A

1 paper

NM_004716.4

p.S243N

c.728G>A

1 paper

NM_004716.4

p.P199S

c.595C>T

1 paper

NM_004716.4

p.I194M

c.582C>G