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.G443delFs

c.1328delC

Surrounding Variants

1 paper

NM_001897.5

p.G443fs

c.1327_1328fs

7 papers

NM_001897.5

p.A445V

c.1334C>T

12 papers

NM_001897.5

p.E441K

c.1321G>A

1 paper

NM_001897.5

p.E448A

c.1343A>C

1 paper

NM_001897.5

p.W449G

c.1345T>G

10 papers

NM_001897.5

p.R450W

c.1348A>T

1 paper

NM_001897.5

p.R450G

c.1348A>G

1 paper

NM_001897.5

p.D457G

c.1370A>G

1 paper

NM_001897.5

p.T429T

c.1287C>A

1 paper

NM_001897.5

p.N427S

c.1280A>G

1 paper

NM_001897.5

p.E462K

c.1384G>A

1 paper

NM_001897.5

p.V416M

c.1246G>A