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.S643T

c.1927T>A

Surrounding Variants

1 paper

NM_000439.5

p.T640N

c.1919C>A

6 papers

NM_000439.5

p.T640A

c.1918A>G

1 paper

NM_000439.5

p.S647G

c.1939A>G

1 paper

NM_000439.5

p.K637E

c.1909A>G

1 paper

NM_000439.5

p.V651I

c.1951G>A

2 papers

NM_000439.5

p.R654Q

c.1961G>A

1 paper

NM_000439.5

p.Q630*

c.1888C>T

3 papers

NM_000439.5

p.P663L

c.1988C>T

1 paper

NM_000439.5

p.S664T

c.1990T>A

1 paper

NM_000439.5

p.S664F

c.1991C>T

32 papers

NM_000439.5

p.Q665E

c.1993C>G

1 paper

NM_000439.5

p.R669*

c.2005C>T