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.Y581C

c.1742A>G

Surrounding Variants

1 paper

NM_001897.5

p.M563L

c.1687A>T

1 paper

NM_001897.5

p.P602P

c.1806C>A

1 paper

NM_001897.5

p.N547N

c.1641C>T

2 papers

NM_001897.5

p.R619Q

c.1856G>A

1 paper

NM_001897.5

p.Y540*

c.1620C>A

1 paper

NM_001897.5

p.G632R

c.1894G>C

1 paper

NM_001897.5

p.L518_V522delFs

c.1552_1564del13

2 papers

NM_001897.5

p.R641W

c.1921C>T

1 paper

NM_001897.5

p.L518fs

c.1552_1553fs

1 paper

NM_001897.5

p.Q517K

c.1549C>A

1 paper

NM_001897.5

p.E512*

c.1534G>T

1 paper

NM_001897.5

p.G510V

c.1529G>T