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

1–12 of 51 variants

4 papers

NM_006574.4

p.G188V

c.563G>T

3 papers

NM_006574.4

p.S231A

c.691T>G

1 paper

NM_006574.4

p.G2E

c.5G>A

1 paper

NM_006574.4

p.P14A

c.40C>G

1 paper

NM_006574.4

p.A23T

c.67G>A

1 paper

NM_006574.4

p.A23A

c.69G>A

1 paper

NM_006574.4

p.P32S

c.94C>T

1 paper

NM_006574.4

p.E35A

c.104A>C

1 paper

NM_006574.4

p.E35D

c.105G>T

1 paper

NM_006574.4

p.E35D

c.105G>C

1 paper

NM_006574.4

p.A36P

c.106G>C

1 paper

NM_006574.4

p.A42V

c.125C>T