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.A26A

c.78C>T

Surrounding Variants

1 paper

NM_004716.4

p.L31L

c.93G>A

1 paper

NM_004716.4

p.V32F

c.94G>T

1 paper

NM_004716.4

p.P33H

c.98C>A

1 paper

NM_004716.4

p.L17insFs

c.50dupT

2 papers

NM_004716.4

p.P14L

c.41C>T

1 paper

NM_004716.4

p.G48V

c.143G>T

1 paper

NM_004716.4

p.G51V

c.152G>T

1 paper

NM_004716.4

p.M1_P2insFs

c.3_4insA

1 paper

NM_004716.4

p.M1I

c.3G>A

2 papers

NM_004716.4

p.P52L

c.155C>T

1 paper

NM_004716.4

p.M1L

c.1A>T

1 paper

NM_004716.4

p.M1L

c.1A>C