Varaico: Literature-Extracted Genetic Variants

Gene:PCOLCE

PCOLCE

34 papers

RefSeq Summary

Fibrillar collagen types I-III are synthesized as precursor molecules known as procollagens. These precursors contain amino- and carboxyl-terminal peptide extensions known as N- and C-propeptides, res...

Pfam Domains

CUBaa 37–146UCSCCUB domain
CUBaa 159–270UCSCCUB domain
NTRaa 330–434UCSCUNC-6/NTR/C345C module

Gene Aliases

HGNC Name

procollagen C-endopeptidase enhancer

HGNC Alias Symbols

PCPE; PCPE1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 26 variants
4 papers
NM_002593.4
p.A444P
c.1330G>C
1 paper
NM_002593.4
p.T6A
c.16A>G
1 paper
NM_002593.4
p.L9P
c.26T>C
1 paper
NM_002593.4
p.S45T
c.133T>A
1 paper
NM_002593.4
p.D93V
c.278A>T
1 paper
NM_002593.4
p.S101delFs
c.303delT
1 paper
NM_002593.4
p.T103fs
c.307_308fs
1 paper
NM_002593.4
p.T103P
c.307A>C
1 paper
NM_002593.4
p.C159fs
c.475_476fs
1 paper
NM_002593.4
p.G160insFs
c.478dupG
1 paper
NM_002593.4
p.L170L
c.510G>A
1 paper
NM_002593.4
p.T171N
c.512C>A
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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."