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

2 papers

NM_001711.6

p.R266T

c.797G>C

Surrounding Variants

6 papers

NM_001711.6

p.G259V

c.776G>T

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.D285E

c.855C>A

1 paper

NM_001711.6

p.D285E

c.855C>G

1 paper

NM_001711.6

p.R257Splc

c.771-32C>T

2 papers

NM_001711.6

p.K288N

c.864G>C

2 papers

NM_001711.6

p.K288N

c.864G>T

1 paper

NM_001711.6

p.V292M

c.874G>A

1 paper

NM_001711.6

p.L299H

c.896T>A

6 papers

NM_001711.6

p.Q303P

c.908A>C

1 paper

NM_001711.6

p.R257Splc

c.770+1G>A