Varaico: Literature-Extracted Genetic Variants

Gene:VCAN
Variant:p.T379I

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
2 papers
NM_004385.5
p.T379I
c.1136C>T
Surrounding Variants
1 paper
NM_004385.5
p.V374I
c.1120G>A
1 paper
NM_004385.5
p.E387K
c.1159G>A
1 paper
NM_004385.5
p.E387ins1
c.1160_1161insTTT
1 paper
NM_004385.5
p.E370_V385del0
c.1110_1154del45
1 paper
NM_004385.5
p.V390G
c.1169T>G
1 paper
NM_004385.5
p.E394_F395del2
c.1180_1184del6
1 paper
NM_004385.5
p.E361Q
c.1081G>C
1 paper
NM_004385.5
p.L359L
c.1077C>T
1 paper
NM_004385.5
p.S403R
c.1209T>A
1 paper
NM_004385.5
p.I354I
c.1062C>T
4 papers
NM_004385.5
p.K349E
c.1045A>G
1 paper
NM_004385.5
p.Q411E
c.1231C>G
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