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

Selected Variant

1 paper

NM_021948.5

p.R312H

c.935G>A

Surrounding Variants

2 papers

NM_021948.5

p.G304R

c.910G>A

2 papers

NM_021948.5

p.G304R

c.910G>C

1 paper

NM_021948.5

p.R321H

c.962G>A

1 paper

NM_021948.5

p.R321P

c.962G>C

1 paper

NM_021948.5

p.G324G

c.972G>C

1 paper

NM_021948.5

p.T287M

c.860C>T

1 paper

NM_021948.5

p.N343delFs

c.1029delT

1 paper

NM_021948.5

p.R280_A293del14

c.838_878del42

1 paper

NM_021948.5

p.R347H

c.1040G>A

2 papers

NM_021948.5

p.R274W

c.820C>T

1 paper

NM_021948.5

p.L270L

c.810G>A

1 paper

NM_021948.5

p.R354Q

c.1061G>A