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

1 paper

NM_001897.5

p.R474Q

c.1421G>A

Surrounding Variants

1 paper

NM_001897.5

p.G475R

c.1423G>C

1 paper

NM_001897.5

p.G475R

c.1423G>A

1 paper

NM_001897.5

p.A476delFs

c.1426delC

1 paper

NM_001897.5

p.A476fs

c.1426_1427fs

8 papers

NM_001897.5

p.R477H

c.1430G>A

1 paper

NM_001897.5

p.E482A

c.1445A>C

1 paper

NM_001897.5

p.L483L

c.1449G>A

1 paper

NM_001897.5

p.D484N

c.1450G>A

1 paper

NM_001897.5

p.E462K

c.1384G>A

1 paper

NM_001897.5

p.R491*

c.1471C>T

1 paper

NM_001897.5

p.D457G

c.1370A>G

1 paper

NM_001897.5

p.D498G

c.1493A>G