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.E222_A223delFs

c.666_667delGG

Surrounding Variants

1 paper

NM_021948.5

p.T219N

c.656C>A

1 paper

NM_021948.5

p.G226E

c.677G>A

2 papers

NM_021948.5

p.P242L

c.725C>T

1 paper

NM_021948.5

p.D243Y

c.727G>T

1 paper

NM_021948.5

p.S209*

c.626C>A

1 paper

NM_021948.5

p.Y200Y

c.600T>C

1 paper

NM_021948.5

p.E190G

c.569A>G

1 paper

NM_021948.5

p.R167H

c.500G>A

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.G257Splc

c.770-19C>A