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.A1212S

c.3634G>T

Surrounding Variants

2 papers

NM_001897.5

p.R1208H

c.3623G>A

2 papers

NM_001897.5

p.I1230V

c.3688A>G

1 paper

NM_001897.5

p.P1238P

c.3714A>G

1 paper

NM_001897.5

p.T1185A

c.3553A>G

1 paper

NM_001897.5

p.R1243W

c.3727C>T

1 paper

NM_001897.5

p.G1175G

c.3525A>T

1 paper

NM_001897.5

p.Y1248*

c.3744C>G

1 paper

NM_001897.5

p.Y1248*

c.3744C>A

1 paper

NM_001897.5

p.D1153G

c.3458A>G

1 paper

NM_001897.5

p.L1135P

c.3404T>C

1 paper

NM_001897.5

p.S1133F

c.3398C>T

1 paper

NM_001897.5

p.E1124E

c.3372A>G