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.D126N

c.376G>A

Surrounding Variants

3 papers

NM_001897.5

p.A131T

c.391G>A

1 paper

NM_001897.5

p.S132F

c.395C>T

2 papers

NM_001897.5

p.G150D

c.449G>A

1 paper

NM_001897.5

p.P157L

c.470C>T

1 paper

NM_001897.5

p.C192S

c.574T>A

1 paper

NM_001897.5

p.S207C

c.620C>G

1 paper

NM_001897.5

p.S211P

c.631T>C

1 paper

NM_001897.5

p.S211F

c.632C>T

1 paper

NM_001897.5

p.Q221E

c.661C>G

1 paper

NM_001897.5

p.L230R

c.689T>G

1 paper

NM_001897.5

p.R235L

c.704G>T

1 paper

NM_001897.5

p.R235Q

c.704G>A