Varaico: Literature-Extracted Genetic Variants

Gene:PCOLCE2
Variant:p.R303W

PCOLCE2

37 papers

Pfam Domains

CUBaa 33–141UCSCCUB domain
CUBaa 154–265UCSCCUB domain
NTRaa 309–412UCSCUNC-6/NTR/C345C module

Gene Aliases

HGNC Name

procollagen C-endopeptidase enhancer 2

HGNC Alias Symbol

PCPE2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_013363.4
p.R303W
c.907C>T
Surrounding Variants
1 paper
NM_013363.4
p.R303G
c.907C>G
1 paper
NM_013363.4
p.R303Q
c.908G>A
1 paper
NM_013363.4
p.P292R
c.875C>G
3 papers
NM_013363.4
p.P292T
c.874C>A
1 paper
NM_013363.4
p.H333H
c.999C>T
1 paper
NM_013363.4
p.N375D
c.1123A>G
1 paper
NM_013363.4
p.R387*
c.1159C>T
1 paper
NM_013363.4
p.I396S
c.1187T>G
1 paper
NM_013363.4
p.T283I
c.848C>T
3 papers
NM_013363.4
p.V280A
c.839T>C
1 paper
NM_013363.4
p.A237Splc
c.711-2A>T
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