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

2 papers

NM_004716.4

p.A74V

c.221C>T

Surrounding Variants

1 paper

NM_004716.4

p.A76A

c.228C>T

1 paper

NM_004716.4

p.E68delFs

c.202delC

1 paper

NM_004716.4

p.A81V

c.242C>T

1 paper

NM_004716.4

p.G63S

c.187G>A

1 paper

NM_004716.4

p.G94R

c.280G>C

1 paper

NM_004716.4

p.G94R

c.280G>A

1 paper

NM_004716.4

p.H95fs

c.283_284fs

1 paper

NM_004716.4

p.P52fs

c.154_155fs

2 papers

NM_004716.4

p.P52L

c.155C>T

1 paper

NM_004716.4

p.G51V

c.152G>T

1 paper

NM_004716.4

p.F98I

c.292T>A

1 paper

NM_004716.4

p.G48V

c.143G>T