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.P64S

c.190C>T

Surrounding Variants

1 paper

NM_021948.5

p.P66P

c.198G>T

1 paper

NM_021948.5

p.S67N

c.200G>A

1 paper

NM_021948.5

p.H60R

c.179A>G

1 paper

NM_021948.5

p.A70delins

c.208_209delinsGC

1 paper

NM_021948.5

p.P75L

c.224C>T

1 paper

NM_021948.5

p.A43V

c.128C>T

2 papers

NM_021948.5

p.R86W

c.256C>T

1 paper

NM_021948.5

p.R38H

c.113G>A

1 paper

NM_021948.5

p.R94_V98delFs

c.280_293del14

1 paper

NM_021948.5

p.R94fs

c.280_281fs

1 paper

NM_021948.5

p.R97H

c.290G>A

8 papers

NM_021948.5

p.R105G

c.313C>G