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

1–12 of 1579 variants

57 papers

NM_000439.5

p.N221D

c.661A>G

42 papers

NM_000439.5

p.S690T

c.2069G>C

37 papers

NM_000439.5

p.N222D

c.664A>G

32 papers

NM_000439.5

p.Q665E

c.1993C>G

17 papers

NM_000439.5

p.G593R

c.1777G>C

17 papers

NM_000439.5

p.G593R

c.1777G>A

14 papers

NM_000439.5

p.A213del1

c.637_638delTGC

14 papers

NM_000439.5

p.S307L

c.920C>T

12 papers

NM_000439.5

p.G209R

c.625G>C

12 papers

NM_000439.5

p.G209R

c.625G>A

12 papers

NM_000439.5

p.E250*

c.748G>T

11 papers

NM_000439.5

p.N309K

c.927C>G