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

1–12 of 207 variants

12 papers

NM_001897.5

p.E441K

c.1321G>A

10 papers

NM_001897.5

p.R450W

c.1348A>T

8 papers

NM_001897.5

p.R477H

c.1430G>A

7 papers

NM_001897.5

p.A445V

c.1334C>T

4 papers

NM_001897.5

p.R365Q

c.1094G>A

4 papers

NM_001897.5

p.P407L

c.1220C>T

4 papers

NM_001897.5

p.R1703H

c.5108G>A

4 papers

NM_001897.5

p.R1842Q

c.5525G>A

3 papers

NM_001897.5

p.A131T

c.391G>A

3 papers

NM_001897.5

p.R1621H

c.4862G>A

2 papers

NM_001897.5

p.G150D

c.449G>A

2 papers

NM_001897.5

p.A349V

c.1046C>T