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

Selected Variant

1 paper

NM_004385.5

p.D301Y

c.901G>T

Surrounding Variants

1 paper

NM_004385.5

p.D301N

c.901G>A

6 papers

NM_004385.5

p.S300L

c.899C>T

1 paper

NM_004385.5

p.S303N

c.908G>A

1 paper

NM_004385.5

p.V304E

c.911T>A

1 paper

NM_004385.5

p.G297R

c.889G>A

1 paper

NM_004385.5

p.D295N

c.883G>A

1 paper

NM_004385.5

p.V310V

c.930G>C

1 paper

NM_004385.5

p.G290S

c.868G>A

1 paper

NM_004385.5

p.Q314*

c.940C>T

1 paper

NM_004385.5

p.C315Y

c.944G>A

4 papers

NM_004385.5

p.A285V

c.854C>T

1 paper

NM_004385.5

p.G318S

c.952G>A