Varaico: Literature-Extracted Genetic Variants

Gene:PCOLCE2
Variant:p.M140I

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.M140I
c.420G>A
Surrounding Variants
1 paper
NM_013363.4
p.R111Q
c.332G>A
1 paper
NM_013363.4
p.R102C
c.304C>T
1 paper
NM_013363.4
p.P66H
c.197C>A
1 paper
NM_013363.4
p.G150Splc
c.448+701G>C
1 paper
NM_013363.4
p.P161L
c.482C>T
1 paper
NM_013363.4
p.S162P
c.484T>C
1 paper
NM_013363.4
p.T167I
c.500C>T
1 paper
NM_013363.4
p.W170*
c.510G>A
1 paper
NM_013363.4
p.R204*
c.610C>T
1 paper
NM_013363.4
p.N206D
c.616A>G
1 paper
NM_013363.4
p.G218S
c.652G>A
1 paper
NM_013363.4
p.E220G
c.659A>G
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