Varaico: Literature-Extracted Genetic Variants

Gene:VCAN
Variant:p.I2244V

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.I2244V
c.6730A>G
Surrounding Variants
1 paper
NM_004385.5
p.T2243R
c.6728C>G
2 papers
NM_004385.5
p.T2243A
c.6727A>G
5 papers
NM_004385.5
p.R2241R
c.6723A>G
1 paper
NM_001164097.2
p.L1269P
c.3806T>C
NM_004385.5
p.L2256P
c.6767T>C
1 paper
NM_004385.5
p.I2216L
c.6646A>C
1 paper
NM_004385.5
p.I2216L
c.6646A>T
1 paper
NM_004385.5
p.A2208V
c.6623C>T
1 paper
NM_004385.5
p.A2208S
c.6622G>T
1 paper
NM_004385.5
p.P2285T
c.6853C>A
9 papers
NM_004385.5
p.F2301Y
c.6902T>A
2 papers
NM_004385.5
p.F2301C
c.6902T>G
1 paper
NM_004385.5
p.E2305_A2308del0
c.6915_6923del9
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