Varaico: Literature-Extracted Genetic Variants

PCSK1

439 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 34–110UCSCPeptidase S8 pro-domain

Peptidase_S8aa 158–442UCSCSubtilase family

P_proproteinaa 504–591UCSCProprotein convertase P-domain

Proho_convertaa 713–751UCSCProhormone convertase enzyme

Gene Aliases

HGNC Name

proprotein convertase subtilisin/kexin type 1

HGNC Previous Symbol

NEC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000439.5

p.H223P

c.668A>C

Surrounding Variants

1 paper

NM_000439.5

p.H223R

c.668A>G

1 paper

NM_000439.5

p.N222K

c.666T>G

1 paper

NM_000439.5

p.N222K

c.666T>A

1 paper

NM_000439.5

p.K224_C225insC

c.670_674ins3

1 paper

NM_000439.5

p.N222I

c.665A>T

1 paper

NM_000439.5

p.K224R

c.671A>G

1 paper

NM_000439.5

p.K224T

c.671A>C

1 paper

NM_000439.5

p.N222T

c.665A>C

1 paper

NM_000439.5

p.N222Y

c.664A>T

37 papers

NM_000439.5

p.N222D

c.664A>G

1 paper

NM_000439.5

p.N222H

c.664A>C

1 paper

NM_000439.5

p.C225G

c.673T>G