Varaico: Literature-Extracted Genetic Variants

CSPG4

236 papers

RefSeq Summary

A human melanoma-associated chondroitin sulfate proteoglycan plays a role in stabilizing cell-substratum interactions during early events of melanoma cell spreading on endothelial basement membranes. ...

Pfam Domains

Laminin_G_2aa 55–178UCSCLaminin G domain

Laminin_G_2aa 230–363UCSCLaminin G domain

Cadherin_3aa 430–532UCSCCadherin-like

Cadherin_3aa 553–658UCSCCadherin-like

Cadherin_3aa 786–893UCSCCadherin-like

Cadherin_3aa 900–1010UCSCCadherin-like

Gene Aliases

HGNC Name

chondroitin sulfate proteoglycan 4

HGNC Alias Symbols

MCSPG; MEL-CSPG; MSK16; NG2; MCSP; HMW-MAA; CSPG4A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001897.5

p.R1624W

c.4870C>T

Surrounding Variants

3 papers

NM_001897.5

p.R1621H

c.4862G>A

1 paper

NM_001897.5

p.A1642D

c.4925C>A

1 paper

NM_001897.5

p.L1605F

c.4813C>T

1 paper

NM_001897.5

p.L1600L

c.4800C>T

1 paper

NM_001897.5

p.G1586V

c.4757G>T

1 paper

NM_001897.5

p.R1573G

c.4717C>G

1 paper

NM_001897.5

p.G1569R

c.4705G>C

1 paper

NM_001897.5

p.G1569R

c.4705G>A

1 paper

NM_001897.5

p.D1553Y

c.4657G>T

1 paper

NM_001897.5

p.V1544M

c.4630G>A

1 paper

NM_001897.5

p.G1542E

c.4625G>A

1 paper

NM_001897.5

p.G1542R

c.4624G>C