Varaico: Literature-Extracted Genetic Variants

Gene:PCSK1N
Variant:p.A122D

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
Selected Variant
2 papers
NM_013271.5
p.A122D
c.365C>A
Surrounding Variants
1 paper
NM_013271.5
p.L125L
c.373C>T
1 paper
NM_013271.5
p.S119A
c.355T>G
1 paper
NM_013271.5
p.S119T
c.355T>A
1 paper
NM_013271.5
p.R117fs
c.349_350fs
1 paper
NM_013271.5
p.D127A
c.380A>C
1 paper
NM_013271.5
p.D128N
c.382G>A
1 paper
NM_013271.5
p.D128A
c.383A>C
1 paper
NM_013271.5
p.D130G
c.389A>G
1 paper
NM_013271.5
p.A133S
c.397G>T
1 paper
NM_013271.5
p.A133T
c.397G>A
1 paper
NM_013271.5
p.A107V
c.320C>T
1 paper
NM_013271.5
p.R104H
c.311G>A
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