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.K712Q

c.2134A>C

Surrounding Variants

4 papers

NM_004716.4

p.R711W

c.2131C>T

1 paper

NM_004716.4

p.E721A

c.2162A>C

1 paper

NM_004716.4

p.S722A

c.2164T>G

1 paper

NM_004716.4

p.R700delFs

c.2099delC

1 paper

NM_004716.4

p.V723A

c.2168T>C

1 paper

NM_004716.4

p.R700M

c.2099G>T

1 paper

NM_004716.4

p.P724A

c.2170C>G

1 paper

NM_004716.4

p.C699Y

c.2096G>A

1 paper

NM_004716.4

p.C726F

c.2177G>T

1 paper

NM_004716.4

p.D732D

c.2196C>T

1 paper

NM_004716.4

p.E733A

c.2198A>C

1 paper

NM_004716.4

p.Q690*

c.2068C>T