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

2 papers

NM_000439.5

p.K234I

c.701A>T

Surrounding Variants

1 paper

NM_000439.5

p.K234T

c.701A>C

1 paper

NM_000439.5

p.V235G

c.704T>G

3 papers

NM_000439.5

p.V235A

c.704T>C

1 paper

NM_000439.5

p.V235D

c.704T>A

1 paper

NM_000439.5

p.S233F

c.698C>T

1 paper

NM_000439.5

p.S233Y

c.698C>A

1 paper

NM_000439.5

p.S233P

c.697T>C

1 paper

NM_000439.5

p.G236*

c.706G>T

1 paper

NM_000439.5

p.G236R

c.706G>C

1 paper

NM_000439.5

p.G236R

c.706G>A

1 paper

NM_000439.5

p.G236V

c.707G>T

1 paper

NM_000439.5

p.G236E

c.707G>A