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.E369delFs

c.1105delC

Surrounding Variants

4 papers

NM_001897.5

p.R365Q

c.1094G>A

1 paper

NM_001897.5

p.R365W

c.1093C>T

1 paper

NM_001897.5

p.R374C

c.1120C>T

1 paper

NM_001897.5

p.S359R

c.1077T>G

1 paper

NM_001897.5

p.S359R

c.1077T>A

1 paper

NM_001897.5

p.S359R

c.1075A>C

1 paper

NM_001897.5

p.L382R

c.1145T>G

2 papers

NM_001897.5

p.A349V

c.1046C>T

1 paper

NM_001897.5

p.G393G

c.1179A>C

1 paper

NM_001897.5

p.Y395*

c.1185T>A

1 paper

NM_001897.5

p.P403P

c.1209T>A

4 papers

NM_001897.5

p.P407L

c.1220C>T