Varaico: Literature-Extracted Genetic Variants

CSPG5

53 papers

RefSeq Summary

The protein encoded by this gene is a proteoglycan that may function as a neural growth and differentiation factor. Several transcript variants encoding different isoforms have been found for this gen...

Pfam Domains

Chon_Sulph_attaa 33–277UCSCChondroitin sulphate attachment domain

Neural_ProG_Cytaa 447–565UCSCNeural chondroitin sulphate proteoglycan cytoplasmic domain

Gene Aliases

HGNC Name

chondroitin sulfate proteoglycan 5

HGNC Alias Symbol

NGC

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006574.4

p.L253F

c.759A>C

Surrounding Variants

1 paper

NM_006574.4

p.L253F

c.759A>T

1 paper

NM_006574.4

p.D261N

c.781G>A

1 paper

NM_006574.4

p.E262K

c.784G>A

1 paper

NM_006574.4

p.F260_D261del2

c.778_782del6

3 papers

NM_006574.4

p.S231A

c.691T>G

1 paper

NM_006574.4

p.T198N

c.593C>A

1 paper

NM_006574.4

p.P194L

c.581C>T

1 paper

NM_006574.4

p.E190Q

c.568G>C

4 papers

NM_006574.4

p.G188V

c.563G>T

1 paper

NM_006574.4

p.R319W

c.955C>T

1 paper

NM_006574.4

p.P186H

c.557C>A

1 paper

NM_006574.4

p.E174Q

c.520G>C