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.D747delFs

c.2239delC

Surrounding Variants

1 paper

NM_000439.5

p.D747fs

c.2239_2240fs

1 paper

NM_000439.5

p.V746M

c.2236G>A

1 paper

NM_000439.5

p.N750Y

c.2248A>T

1 paper

NM_000439.5

p.N750H

c.2248A>C

1 paper

NM_000439.5

p.N750I

c.2249A>T

1 paper

NM_000439.5

p.N750K

c.2250T>G

1 paper

NM_000439.5

p.N750K

c.2250T>A

2 papers

NM_000439.5

p.N753H

c.2257A>C

3 papers

NM_000439.5

p.R740Q

c.2219G>A

2 papers

NM_000439.5

p.R740W

c.2218C>T

1 paper

NM_000439.5

p.D739N

c.2215G>A

1 paper

NM_000439.5

p.Y734*

c.2202C>G