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

4 papers

NM_004385.5

p.G1335Splc

c.4004-5T>A

Surrounding Variants

6 papers

NM_004385.5

p.G1335Splc

c.4004-5T>C

2 papers

NM_004385.5

p.G1335Splc

c.4004-6T>A

1 paper

NM_004385.5

p.G1335Splc

c.4004-2A>C

8 papers

NM_004385.5

p.G1335Splc

c.4004-2A>G

4 papers

NM_004385.5

p.G1335Splc

c.4004-2A>T

7 papers

NM_004385.5

p.G1335Splc

c.4004-1G>A

3 papers

NM_004385.5

p.G1335Splc

c.4004-1G>C

3 papers

NM_004385.5

p.G1335Splc

c.4004-1G>T

1 paper

NM_004385.5

p.R1336*

c.4006C>T

1 paper

NM_004385.5

p.R1336Q

c.4007G>A

1 paper

NM_004385.5

p.P1346T

c.4036C>A

2 papers

NM_004385.5

p.D1354N

c.4060G>A