Varaico: Literature-Extracted Genetic Variants

Gene:GPC6
Variant:p.P522L

GPC6

105 papers

RefSeq Summary

The glypicans comprise a family of glycosylphosphatidylinositol-anchored heparan sulfate proteoglycans, and they have been implicated in the control of cell growth and cell division. The glypican enco...

Pfam Domains

Glypicanaa 12–554UCSCGlypican

Gene Aliases

HGNC Name

glypican 6

HGNC Alias Name

glypican proteoglycan 6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005708.5
p.P522L
c.1565C>T
Surrounding Variants
1 paper
NM_005708.5
p.D521Y
c.1561G>T
2 papers
NM_005708.5
p.R524W
c.1570C>T
1 paper
NM_005708.5
p.E526A
c.1577A>C
1 paper
NM_005708.5
p.A517fs
c.1549_1550fs
1 paper
NM_005708.5
p.A517delFs
c.1550delC
1 paper
NM_005708.5
p.D528N
c.1582G>A
1 paper
NM_005708.5
p.R534H
c.1601G>A
1 paper
NM_005708.5
p.F510C
c.1529T>G
1 paper
NM_005708.5
p.V505M
c.1513G>A
1 paper
NM_005708.5
p.Q551K
c.1651C>A
1 paper
NM_005708.5
p.R555fs
c.1663_1664fs
1 paper
NM_005708.5
p.D482Y
c.1444G>T
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