Varaico: Literature-Extracted Genetic Variants

Gene:VCAN
Variant:p.V536V

VCAN

394 papers

RefSeq Summary

This gene is a member of the aggrecan/versican proteoglycan family. The protein encoded is a large chondroitin sulfate proteoglycan and is a major component of the extracellular matrix. This protein i...

Pfam Domains

V-setaa 27–148UCSCImmunoglobulin V-set domain
Xlinkaa 150–244UCSCExtracellular link domain
Xlinkaa 251–346UCSCExtracellular link domain
EGFaa 3093–3123UCSCEGF-like domain
EGFaa 3131–3161UCSCEGF-like domain
Lectin_Caa 3186–3291UCSCLectin C-type domain

Gene Aliases

HGNC Name

versican

HGNC Previous Symbol

CSPG2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004385.5
p.V536V
c.1608A>G
Surrounding Variants
1 paper
NM_004385.5
p.K534*
c.1600A>T
1 paper
NM_004385.5
p.V543L
c.1627G>C
1 paper
NM_004385.5
p.V543L
c.1627G>T
1 paper
NM_004385.5
p.E528G
c.1583A>G
1 paper
NM_004385.5
p.Y548C
c.1643A>G
1 paper
NM_004385.5
p.G549E
c.1646G>A
1 paper
NM_004385.5
p.A523V
c.1568C>T
1 paper
NM_004385.5
p.D556_D557delFs
c.1666_1669del4
1 paper
NM_004385.5
p.D557Y
c.1669G>T
1 paper
NM_004385.5
p.D557G
c.1670A>G
1 paper
NM_004385.5
p.D559N
c.1675G>A
1 paper
NM_004385.5
p.D559E
c.1677C>A
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