Varaico: Literature-Extracted Genetic Variants

Gene:VCAN
Variant:p.D2931Y

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.D2931Y
c.8791G>T
Surrounding Variants
1 paper
NM_004385.5
p.G2925E
c.8774G>A
13 papers
NM_004385.5
p.D2937Y
c.8809G>T
1 paper
NM_004385.5
p.E2919insFs
c.8755_8756insC
1 paper
NM_004385.5
p.M2913V
c.8737A>G
1 paper
NM_004385.5
p.I2960T
c.8879T>C
1 paper
NM_004385.5
p.E2965E
c.8895A>G
2 papers
NM_004385.5
p.D2895H
c.8683G>C
1 paper
NM_004385.5
p.S2891_L2892insA
c.8671_8675ins3
2 papers
NM_004385.5
p.Q2973H
c.8919G>C
2 papers
NM_004385.5
p.Q2973H
c.8919G>T
1 paper
NM_004385.5
p.Y2883*
c.8649C>A
1 paper
NM_004385.5
p.Y2883*
c.8649C>G
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