Varaico: Literature-Extracted Genetic Variants

Gene:GPC5
Variant:p.R223C

GPC5

106 papers

RefSeq Summary

Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral mem...

Pfam Domains

Glypicanaa 12–570UCSCGlypican

Gene Aliases

HGNC Name

glypican 5

HGNC Alias Name

glypican proteoglycan 5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_004466.6
p.R223C
c.667C>T
Surrounding Variants
1 paper
NM_004466.6
p.R223H
c.668G>A
1 paper
NM_004466.6
p.S218F
c.653C>T
1 paper
NM_004466.6
p.G213E
c.638G>A
1 paper
NM_004466.6
p.I233V
c.697A>G
1 paper
NM_004466.6
p.E234D
c.702A>C
1 paper
NM_004466.6
p.E234D
c.702A>T
1 paper
NM_004466.6
p.V235D
c.704T>A
1 paper
NM_004466.6
p.D240N
c.718G>A
1 paper
NM_004466.6
p.F244V
c.730T>G
1 paper
NM_004466.6
p.R195W
c.583C>T
1 paper
NM_004466.6
p.C258*
c.774C>A
1 paper
NM_004466.6
p.S187F
c.560C>T
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