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.E624K

c.1870G>A

Surrounding Variants

1 paper

NM_004385.5

p.E624D

c.1872G>C

1 paper

NM_004385.5

p.E624D

c.1872G>T

1 paper

NM_004385.5

p.D621N

c.1861G>A

4 papers

NM_004385.5

p.T632M

c.1895C>T

1 paper

NM_004385.5

p.G637A

c.1910G>C

1 paper

NM_004385.5

p.R650C

c.1948C>T

1 paper

NM_004385.5

p.T651P

c.1951A>C

1 paper

NM_004385.5

p.D596G

c.1787A>G

1 paper

NM_004385.5

p.L594L

c.1782A>G

1 paper

NM_004385.5

p.H591Y

c.1771C>T

1 paper

NM_004385.5

p.D661Y

c.1981G>T

1 paper

NM_004385.5

p.K662_I668ins2

c.1986_2003dup18