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.S1049L

c.3146C>T

Surrounding Variants

1 paper

NM_001897.5

p.D1046N

c.3136G>A

1 paper

NM_001897.5

p.A1054T

c.3160G>A

1 paper

NM_001897.5

p.D1040D

c.3120C>T

1 paper

NM_001897.5

p.D1040N

c.3118G>A

2 papers

NM_001897.5

p.T1039A

c.3115A>G

1 paper

NM_001897.5

p.R1076W

c.3226C>T

1 paper

NM_001897.5

p.R1080H

c.3239G>A

1 paper

NM_001897.5

p.V1003L

c.3007G>T

1 paper

NM_001897.5

p.V1003L

c.3007G>C

1 paper

NM_001897.5

p.Q1113delFs

c.3337delG

1 paper

NM_001897.5

p.Q1113fs

c.3337_3338fs

1 paper

NM_001897.5

p.D982E

c.2946T>G