Varaico: Literature-Extracted Genetic Variants

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

1–12 of 603 variants

13 papers

NM_004385.5

p.D2937Y

c.8809G>T

10 papers

NM_004385.5

p.G428D

c.1283G>A

9 papers

NM_004385.5

p.R1826H

c.5477G>A

9 papers

NM_004385.5

p.F2301Y

c.6902T>A

8 papers

NM_004385.5

p.G1335Splc

c.4004-2A>G

8 papers

NM_004385.5

p.G3089Splc

c.9265+1G>A

7 papers

NM_004385.5

p.G1335Splc

c.4004-1G>A

7 papers

NM_004385.5

p.K1516R

c.4547A>G

7 papers

NM_004385.5

p.G3089Splc

c.9265+2T>A

6 papers

NM_004385.5

p.S300L

c.899C>T

6 papers

NM_004385.5

p.G1335Splc

c.4004-5T>C

5 papers

NM_004385.5

p.R2241R

c.6723A>G