Varaico: Literature-Extracted Genetic Variants

BCAN

123 papers

RefSeq Summary

This gene encodes a member of the lectican family of chondroitin sulfate proteoglycans that is specifically expressed in the central nervous system. This protein is developmentally regulated and may f...

Pfam Domains

V-setaa 41–155UCSCImmunoglobulin V-set domain

Xlinkaa 157–251UCSCExtracellular link domain

Xlinkaa 258–353UCSCExtracellular link domain

EGFaa 650–680UCSCEGF-like domain

Lectin_Caa 705–810UCSCLectin C-type domain

Sushiaa 815–871UCSCSushi repeat (SCR repeat)

Gene Aliases

HGNC Name

brevican

HGNC Alias Symbols

BEHAB; MGC13038; CSPG7

Papers

RefSeq ID

Protein change

DNA change

1–12 of 123 variants

10 papers

NM_021948.5

p.E504K

c.1510G>A

8 papers

NM_021948.5

p.R105G

c.313C>G

4 papers

NM_021948.5

p.R706L

c.2117G>T

3 papers

NM_021948.5

p.P368S

c.1102C>T

3 papers

NM_021948.5

p.L595I

c.1783C>A

2 papers

NM_021948.5

p.R86W

c.256C>T

2 papers

NM_021948.5

p.P242L

c.725C>T

2 papers

NM_021948.5

p.R274W

c.820C>T

2 papers

NM_021948.5

p.G304R

c.910G>A

2 papers

NM_021948.5

p.G304R

c.910G>C

2 papers

NM_021948.5

p.E385Q

c.1153G>C

2 papers

NM_021948.5

p.E398K

c.1192G>A