Varaico: Literature-Extracted Genetic Variants

Gene:GPC5
Variant:p.R347H

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.R347H
c.1040G>A
Surrounding Variants
1 paper
NM_004466.6
p.R347L
c.1040G>T
1 paper
NM_004466.6
p.R347C
c.1039C>T
1 paper
NM_004466.6
p.P348R
c.1043C>G
1 paper
NM_004466.6
p.P348L
c.1043C>T
1 paper
NM_004466.6
p.V349I
c.1045G>A
1 paper
NM_004466.6
p.V341I
c.1021G>A
1 paper
NM_004466.6
p.S355N
c.1064G>A
1 paper
NM_004466.6
p.R357C
c.1069C>T
1 paper
NM_004466.6
p.R357H
c.1070G>A
1 paper
NM_004466.6
p.E365G
c.1094A>G
1 paper
NM_004466.6
p.T373A
c.1117A>G
1 paper
NM_004466.6
p.E377D
c.1131A>C
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