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

2 papers

NM_001897.5

p.R619Q

c.1856G>A

Surrounding Variants

1 paper

NM_001897.5

p.G632R

c.1894G>C

1 paper

NM_001897.5

p.P602P

c.1806C>A

2 papers

NM_001897.5

p.R641W

c.1921C>T

1 paper

NM_001897.5

p.Y581C

c.1742A>G

1 paper

NM_001897.5

p.P661L

c.1982C>T

1 paper

NM_001897.5

p.R667_R672delFs

c.2001_2014del14

1 paper

NM_001897.5

p.M563L

c.1687A>T

2 papers

NM_001897.5

p.M679V

c.2035A>G

1 paper

NM_001897.5

p.N685T

c.2054A>C

1 paper

NM_001897.5

p.N547N

c.1641C>T

1 paper

NM_001897.5

p.Y540*

c.1620C>A

1 paper

NM_001897.5

p.R702C

c.2104C>T