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.E39Q

c.115G>C

Surrounding Variants

1 paper

NM_001711.6

p.D38E

c.114T>A

1 paper

NM_001711.6

p.D38E

c.114T>G

1 paper

NM_001711.6

p.A41T

c.121G>A

1 paper

NM_001711.6

p.S42T

c.124T>A

1 paper

NM_001711.6

p.S42A

c.124T>G

1 paper

NM_001711.6

p.A44D

c.131C>A

1 paper

NM_001711.6

p.S47A

c.139T>G

3 papers

NM_001711.6

p.S47S

c.141G>A

1 paper

NM_001711.6

p.S47S

c.141G>C

1 paper

NM_001711.6

p.D51N

c.151G>A

1 paper

NM_001711.6

p.W25*

c.75G>A

1 paper

NM_001711.6

p.W25*

c.74G>A