Varaico: Literature-Extracted Genetic Variants

Gene:VCAN
Variant:p.K422R

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.K422R
c.1265A>G
Surrounding Variants
10 papers
NM_004385.5
p.G428D
c.1283G>A
1 paper
NM_004385.5
p.G428G
c.1284C>G
1 paper
NM_004385.5
p.K432_W434del3
c.1294_1301del9
1 paper
NM_004385.5
p.Q413*
c.1237C>T
1 paper
NM_004385.5
p.P412L
c.1235C>T
1 paper
NM_004385.5
p.P433S
c.1297C>T
1 paper
NM_004385.5
p.Q411E
c.1231C>G
1 paper
NM_004385.5
p.D435N
c.1303G>A
1 paper
NM_004385.5
p.D437N
c.1309G>A
1 paper
NM_004385.5
p.S403R
c.1209T>A
1 paper
NM_004385.5
p.G445delFs
c.1334delG
1 paper
NM_004385.5
p.G445fs
c.1333_1334fs
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