Varaico: Literature-Extracted Genetic Variants

Gene:PCOLCE
Variant:p.A278T

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
Selected Variant
1 paper
NM_002593.4
p.A278T
c.832G>A
Surrounding Variants
1 paper
NM_002593.4
p.P274L
c.821C>T
1 paper
NM_002593.4
p.P274S
c.820C>T
1 paper
NM_002593.4
p.P284T
c.850C>A
1 paper
NM_002593.4
p.L296fs
c.886_887fs
1 paper
NM_002593.4
p.P297insFs
c.889dupC
1 paper
NM_002593.4
p.P297fs
c.889_890fs
1 paper
NM_002593.4
p.P297S
c.889C>T
1 paper
NM_002593.4
p.G233V
c.698G>T
1 paper
NM_002593.4
p.G233R
c.697G>A
1 paper
NM_002593.4
p.G233R
c.697G>C
1 paper
NM_002593.4
p.M346T
c.1037T>C
1 paper
NM_002593.4
p.Y364C
c.1091A>G
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