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.A42V

c.125C>T

Surrounding Variants

1 paper

NM_006574.4

p.A36P

c.106G>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.E35A

c.104A>C

1 paper

NM_006574.4

p.A56V

c.167C>T

1 paper

NM_006574.4

p.R60W

c.178C>T

1 paper

NM_006574.4

p.P65L

c.194C>T

1 paper

NM_006574.4

p.G69A

c.206G>C

1 paper

NM_006574.4

p.E87fs

c.259_260fs

1 paper

NM_006574.4

p.E87delFs

c.260_261delCT

1 paper

NM_006574.4

p.D104N

c.310G>A

1 paper

NM_006574.4

p.E145Q

c.433G>C