Varaico: Literature-Extracted Genetic Variants

Gene:VCAN
Variant:p.Q942*

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.Q942*
c.2824C>T
Surrounding Variants
2 papers
NM_004385.5
p.A944S
c.2830G>T
1 paper
NM_004385.5
p.H945R
c.2834A>G
1 paper
NM_004385.5
p.D930V
c.2789A>T
1 paper
NM_004385.5
p.F954L
c.2860T>C
1 paper
NM_004385.5
p.F954L
c.2862T>A
1 paper
NM_004385.5
p.F954L
c.2862T>G
1 paper
NM_004385.5
p.S956R
c.2866A>C
1 paper
NM_004385.5
p.S956T
c.2867G>C
1 paper
NM_004385.5
p.S956R
c.2868T>A
1 paper
NM_004385.5
p.S956R
c.2868T>G
1 paper
NM_004385.5
p.S959R
c.2875A>C
2 papers
NM_004385.5
p.S959C
c.2875A>T
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