Varaico: Literature-Extracted Genetic Variants

BGN

102 papers

RefSeq Summary

This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role i...

Pfam Domains

LRRNTaa 62–89UCSCLeucine rich repeat N-terminal domain

LRR_8aa 90–150UCSCLeucine rich repeat

LRR_8aa 159–220UCSCLeucine rich repeat

LRR_8aa 229–289UCSCLeucine rich repeat

Gene Aliases

HGNC Name

biglycan

HGNC Alias Symbols

DSPG1; SLRR1A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001711.6

p.L213P

c.638T>C

Surrounding Variants

1 paper

NM_001711.6

p.R214C

c.640C>T

1 paper

NM_001711.6

p.K209E

c.625A>G

1 paper

NM_001711.6

p.M190T

c.569T>C

1 paper

NM_001711.6

p.D226Splc

c.677-2A>G

1 paper

NM_001711.6

p.D226Splc

c.677-2A>T

1 paper

NM_001711.6

p.R257Splc

c.770+1G>A

1 paper

NM_001711.6

p.R257Splc

c.771-32C>T

6 papers

NM_001711.6

p.G259V

c.776G>T

2 papers

NM_001711.6

p.R266T

c.797G>C

1 paper

NM_001711.6

p.L279F

c.835C>T

1 paper

NM_001711.6

p.R280W

c.838C>T

1 paper

NM_001711.6

p.E189K

c.565G>A