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.E126K

c.376G>A

Surrounding Variants

1 paper

NM_021948.5

p.P129L

c.386C>T

1 paper

NM_021948.5

p.S121P

c.361T>C

1 paper

NM_021948.5

p.I134T

c.401T>C

1 paper

NM_021948.5

p.I134M

c.402C>G

1 paper

NM_021948.5

p.S147C

c.439A>T

8 papers

NM_021948.5

p.R105G

c.313C>G

1 paper

NM_021948.5

p.R97H

c.290G>A

1 paper

NM_021948.5

p.R94fs

c.280_281fs

1 paper

NM_021948.5

p.R94_V98delFs

c.280_293del14

2 papers

NM_021948.5

p.R86W

c.256C>T

1 paper

NM_021948.5

p.P75L

c.224C>T

1 paper

NM_021948.5

p.A70delins

c.208_209delinsGC