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.E665_E666del1

c.1995_1997delGGA

Surrounding Variants

1 paper

NM_021948.5

p.E666_G667del2

c.1996_2000del6

1 paper

NM_021948.5

p.E666del1

c.1996_1997delGAA

1 paper

NM_021948.5

p.Y676fs

c.2026_2027fs

1 paper

NM_021948.5

p.G677insFs

c.2029dupG

1 paper

NM_021948.5

p.G677A

c.2030G>C

1 paper

NM_021948.5

p.D682Y

c.2044G>T

1 paper

NM_021948.5

p.V683I

c.2047G>A

1 paper

NM_021948.5

p.G684Splc

c.2050+30G>C

1 paper

NM_021948.5

p.G684Splc

c.2050+75G>A

1 paper

NM_021948.5

p.S704P

c.2110T>C

4 papers

NM_021948.5

p.R706L

c.2117G>T

1 paper

NM_021948.5

p.C716F

c.2147G>T