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.M419I

c.1257G>A

Surrounding Variants

1 paper

NM_004716.4

p.M419I

c.1257G>T

1 paper

NM_004716.4

p.M419I

c.1257G>C

1 paper

NM_004716.4

p.A417T

c.1249G>A

1 paper

NM_004716.4

p.G397R

c.1189G>C

1 paper

NM_004716.4

p.Q393H

c.1179G>T

1 paper

NM_004716.4

p.Q393H

c.1179G>C

1 paper

NM_004716.4

p.T388S

c.1163C>G

1 paper

NM_004716.4

p.T388S

c.1162A>T

1 paper

NM_004716.4

p.I385_V386Splc

c.1156-2A>G

1 paper

NM_004716.4

p.A447T

c.1339G>A

1 paper

NM_004716.4

p.A454S

c.1360G>T

1 paper

NM_004716.4

p.H458Y

c.1372C>T