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.Y117_A118Splc

c.351+1G>A

Surrounding Variants

1 paper

NM_001711.6

p.L116I

c.346C>A

1 paper

NM_001711.6

p.L116V

c.346C>G

1 paper

NM_001711.6

p.D109A

c.326A>C

1 paper

NM_001711.6

p.L95P

c.284T>C

1 paper

NM_001711.6

p.E87Q

c.259G>C

2 papers

NM_001711.6

p.K86R

c.257A>G

1 paper

NM_001711.6

p.Y117_A118Splc

c.352-54G>T

5 papers

NM_001711.6

p.G80S

c.238G>A

1 paper

NM_001711.6

p.Q75E

c.223C>G

1 paper

NM_001711.6

p.Q75*

c.223C>T

1 paper

NM_001711.6

p.V74L

c.220G>C

1 paper

NM_001711.6

p.L119L

c.357C>T