Varaico: Literature-Extracted Genetic Variants

Gene:VCAN
Variant:p.H1257Y

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.H1257Y
c.3769C>T
Surrounding Variants
3 papers
NM_004385.5
p.S1254S
c.3762A>G
1 paper
NM_004385.5
p.D1247N
c.3739G>A
1 paper
NM_004385.5
p.L1235F
c.3703C>T
1 paper
NM_004385.5
p.T1281M
c.3842C>T
1 paper
NM_004385.5
p.S1227Y
c.3680C>A
1 paper
NM_004385.5
p.T1209I
c.3626C>T
1 paper
NM_004385.5
p.A1306G
c.3917C>G
1 paper
NM_004385.5
p.S1308C
c.3923C>G
3 papers
NM_004385.5
p.T1309M
c.3926C>T
1 paper
NM_004385.5
p.I1199I
c.3597C>T
1 paper
NM_004385.5
p.F1318_D1321del0
c.3954_3962del9
1 paper
NM_004385.5
p.H1319L
c.3956A>T
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