Varaico: Literature-Extracted Genetic Variants

Gene:VCAN
Variant:p.V2854A

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.V2854A
c.8561T>C
Surrounding Variants
1 paper
NM_004385.5
p.G2851E
c.8552G>A
1 paper
NM_004385.5
p.S2860Y
c.8579C>A
1 paper
NM_004385.5
p.S2860F
c.8579C>T
1 paper
NM_004385.5
p.P2844P
c.8532C>G
2 papers
NM_004385.5
p.S2864Y
c.8591C>A
3 papers
NM_004385.5
p.A2874V
c.8621C>T
1 paper
NM_004385.5
p.T2830S
c.8489C>G
1 paper
NM_004385.5
p.T2830S
c.8488A>T
1 paper
NM_004385.5
p.Y2883*
c.8649C>A
1 paper
NM_004385.5
p.Y2883*
c.8649C>G
1 paper
NM_004385.5
p.A2818T
c.8452G>A
1 paper
NM_004385.5
p.S2891_L2892insA
c.8671_8675ins3
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