Varaico: Literature-Extracted Genetic Variants

Gene:VCAN
Variant:p.A1426P

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.A1426P
c.4276G>C
Surrounding Variants
1 paper
NM_004385.5
p.A1438T
c.4312G>A
1 paper
NM_004385.5
p.S1440_Q1441del2
c.4318_4322del6
1 paper
NM_004385.5
p.S1440F
c.4319C>T
3 papers
NM_004385.5
p.Q1441Q
c.4323G>A
1 paper
NM_004385.5
p.F1443L
c.4327T>C
1 paper
NM_004385.5
p.F1443L
c.4329C>A
1 paper
NM_004385.5
p.F1443L
c.4329C>G
1 paper
NM_004385.5
p.S1444S
c.4332G>T
1 paper
NM_004385.5
p.D1450N
c.4348G>A
1 paper
NM_004385.5
p.T1400N
c.4199C>A
1 paper
NM_004385.5
p.A1397E
c.4190C>A
1 paper
NM_004385.5
p.E1395del1
c.4183_4184delGAG
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