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.D2117E

c.6351C>G

Surrounding Variants

1 paper

NM_001897.5

p.D2117E

c.6351C>A

1 paper

NM_001897.5

p.P2130Q

c.6389C>A

1 paper

NM_001897.5

p.E2131Q

c.6391G>C

1 paper

NM_001897.5

p.T2102M

c.6305C>T

1 paper

NM_001897.5

p.V2097M

c.6289G>A

1 paper

NM_001897.5

p.R2093H

c.6278G>A

1 paper

NM_001897.5

p.R2082H

c.6245G>A

1 paper

NM_001897.5

p.R2076H

c.6227G>A

1 paper

NM_001897.5

p.R2183Q

c.6548G>A

1 paper

NM_001897.5

p.K2188R

c.6563A>G

1 paper

NM_001897.5

p.E2190E

c.6570G>A

1 paper

NM_001897.5

p.P2207P

c.6621C>T