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.E1124E

c.3372A>G

Surrounding Variants

1 paper

NM_001897.5

p.S1133F

c.3398C>T

1 paper

NM_001897.5

p.L1135P

c.3404T>C

1 paper

NM_001897.5

p.Q1113fs

c.3337_3338fs

1 paper

NM_001897.5

p.Q1113delFs

c.3337delG

1 paper

NM_001897.5

p.D1153G

c.3458A>G

1 paper

NM_001897.5

p.R1080H

c.3239G>A

1 paper

NM_001897.5

p.R1076W

c.3226C>T

1 paper

NM_001897.5

p.G1175G

c.3525A>T

1 paper

NM_001897.5

p.T1185A

c.3553A>G

1 paper

NM_001897.5

p.A1054T

c.3160G>A

1 paper

NM_001897.5

p.S1049L

c.3146C>T

1 paper

NM_001897.5

p.D1046N

c.3136G>A