Varaico: Literature-Extracted Genetic Variants

Gene:PCSK1N

PCSK1N

322 papers

RefSeq Summary

The protein encoded by this gene functions as an inhibitor of prohormone convertase 1, which regulates the proteolytic cleavage of neuroendocrine peptide precursors. The proprotein is further processe...

Pfam Domains

ProSAASaa 34–260UCSCProSAAS precursor

Gene Aliases

HGNC Name

proprotein convertase subtilisin/kexin type 1 inhibitor

HGNC Alias Symbols

SAAS; SgVIII; SCG8; proSAAS; PEN; BigLEN

Papers
RefSeq ID
Protein change
DNA change
1–12 of 149 variants
3 papers
NM_013271.5
p.A85V
c.254C>T
2 papers
NM_013271.5
p.P28_P29insFs
c.84_85insT
2 papers
NM_013271.5
p.A31A
c.93G>A
2 papers
NM_013271.5
p.R58G
c.172C>G
2 papers
NM_013271.5
p.R77Q
c.230G>A
2 papers
NM_013271.5
p.E84_A85insT
c.250_254ins3
2 papers
NM_013271.5
p.A122D
c.365C>A
2 papers
NM_013271.5
p.A143T
c.427G>A
2 papers
NM_013271.5
p.I202F
c.604A>T
1 paper
NM_013271.5
p.M1insFs
c.1_2dupAT
1 paper
NM_013271.5
p.A2ins1
c.4_5insTAC
1 paper
NM_013271.5
p.A2G
c.5C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."