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.R167H

c.500G>A

Surrounding Variants

1 paper

NM_021948.5

p.E163Q

c.487G>C

1 paper

NM_021948.5

p.F159C

c.476T>G

1 paper

NM_021948.5

p.V157F

c.469G>T

1 paper

NM_021948.5

p.E190G

c.569A>G

1 paper

NM_021948.5

p.G156Splc

c.467-48C>A

1 paper

NM_021948.5

p.Y200Y

c.600T>C

1 paper

NM_021948.5

p.S209*

c.626C>A

1 paper

NM_021948.5

p.S147C

c.439A>T

1 paper

NM_021948.5

p.I134M

c.402C>G

1 paper

NM_021948.5

p.I134T

c.401T>C

1 paper

NM_021948.5

p.P129L

c.386C>T

1 paper

NM_021948.5

p.T219N

c.656C>A