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.G639S

c.1915G>A

Surrounding Variants

1 paper

NM_021948.5

p.A636T

c.1906G>A

1 paper

NM_021948.5

p.P645delFs

c.1935delC

1 paper

NM_021948.5

p.G648R

c.1942G>C

1 paper

NM_021948.5

p.S611Y

c.1832C>A

2 papers

NM_021948.5

p.A600T

c.1798G>A

3 papers

NM_021948.5

p.L595I

c.1783C>A

1 paper

NM_021948.5

p.P592H

c.1775C>A

1 paper

NM_021948.5

p.A591V

c.1772C>T

1 paper

NM_021948.5

p.E583K

c.1747G>A

1 paper

NM_021948.5

p.R579Q

c.1736G>A

1 paper

NM_021948.5

p.P546S

c.1636C>T

1 paper

NM_021948.5

p.P533S

c.1597C>T