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

6 papers

NM_000439.5

p.Y343*

c.1029C>A

Surrounding Variants

7 papers

NM_000439.5

p.Y343*

c.1029C>G

1 paper

NM_000439.5

p.A344S

c.1030G>T

2 papers

NM_000439.5

p.A344P

c.1030G>C

4 papers

NM_000439.5

p.A344T

c.1030G>A

1 paper

NM_000439.5

p.Y343C

c.1028A>G

1 paper

NM_000439.5

p.Y343S

c.1028A>C

1 paper

NM_000439.5

p.Y343D

c.1027T>G

1 paper

NM_000439.5

p.Y343H

c.1027T>C

1 paper

NM_000439.5

p.Y343N

c.1027T>A

2 papers

NM_000439.5

p.A344D

c.1031C>A

1 paper

NM_000439.5

p.W342fs

c.1024_1025fs

1 paper

NM_000439.5

p.E345Q

c.1033G>C