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.S561G

c.1681A>G

Surrounding Variants

1 paper

NM_004716.4

p.R560C

c.1678C>T

4 papers

NM_004716.4

p.R560G

c.1678C>G

2 papers

NM_004716.4

p.S564Splc

c.1691+1G>A

1 paper

NM_004716.4

p.M552T

c.1655T>C

1 paper

NM_004716.4

p.G551V

c.1652G>T

1 paper

NM_004716.4

p.G551R

c.1651G>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.S550R

c.1648A>C

1 paper

NM_004716.4

p.K545M

c.1634A>T

1 paper

NM_004716.4

p.E526K

c.1576G>A

2 papers

NM_004716.4

p.C579*

c.1737C>A