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.N275K

c.825C>G

Surrounding Variants

1 paper

NM_001897.5

p.N275K

c.825C>A

1 paper

NM_001897.5

p.N275D

c.823A>G

1 paper

NM_001897.5

p.A262T

c.784G>A

1 paper

NM_001897.5

p.G245S

c.733G>A

1 paper

NM_001897.5

p.S308L

c.923C>T

1 paper

NM_001897.5

p.G311A

c.932G>C

1 paper

NM_001897.5

p.R235L

c.704G>T

1 paper

NM_001897.5

p.R235Q

c.704G>A

1 paper

NM_001897.5

p.P318A

c.952C>G

1 paper

NM_001897.5

p.L230R

c.689T>G

1 paper

NM_001897.5

p.G326G

c.978G>A

1 paper

NM_001897.5

p.Q221E

c.661C>G