Varaico: Literature-Extracted Genetic Variants

Gene:GPC5
Variant:p.E75V

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
1 paper
NM_004466.6
p.E75V
c.224A>T
Surrounding Variants
1 paper
NM_004466.6
p.Q78K
c.232C>A
1 paper
NM_004466.6
p.R82H
c.245G>A
1 paper
NM_004466.6
p.R82P
c.245G>C
1 paper
NM_004466.6
p.R82R
c.246C>T
1 paper
NM_004466.6
p.Q83P
c.248A>C
1 paper
NM_004466.6
p.T91M
c.272C>T
1 paper
NM_004466.6
p.S93I
c.278G>T
1 paper
NM_004466.6
p.S94P
c.280T>C
1 paper
NM_004466.6
p.R102G
c.304C>G
1 paper
NM_004466.6
p.R102*
c.304C>T
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