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.R1980S

c.5938C>A

Surrounding Variants

1 paper

NM_001897.5

p.R1980C

c.5938C>T

1 paper

NM_001897.5

p.R1980H

c.5939G>A

1 paper

NM_001897.5

p.R1972Q

c.5915G>A

1 paper

NM_001897.5

p.R1967R

c.5901G>A

1 paper

NM_001897.5

p.S1998L

c.5993C>T

1 paper

NM_001897.5

p.D2006N

c.6016G>A

1 paper

NM_001897.5

p.G2008S

c.6022G>A

1 paper

NM_001897.5

p.S2001_T2015del0

c.6002_6043del42

2 papers

NM_001897.5

p.D1936G

c.5807A>G

1 paper

NM_001897.5

p.R1903Q

c.5708G>A

1 paper

NM_001897.5

p.D1898N

c.5692G>A

1 paper

NM_001897.5

p.R2076H

c.6227G>A