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.I902fs

c.2704_2705fs

Surrounding Variants

1 paper

NM_021948.5

p.I902delFs

c.2705delT

1 paper

NM_021948.5

p.P903S

c.2707C>T

1 paper

NM_021948.5

p.P876_A877Splc

c.2629-102C>A

1 paper

NM_021948.5

p.P876_A877Splc

c.2628+4A>G

1 paper

NM_021948.5

p.S870F

c.2609C>T

1 paper

NM_021948.5

p.W864R

c.2590T>A

1 paper

NM_021948.5

p.W864R

c.2590T>C

1 paper

NM_021948.5

p.Q859*

c.2575C>T

2 papers

NM_021948.5

p.R829H

c.2486G>A

2 papers

NM_021948.5

p.G828S

c.2482G>A

1 paper

NM_021948.5

p.A824G

c.2471C>G

1 paper

NM_021948.5

p.A824T

c.2470G>A