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

6 papers

NM_001711.6

p.W2*

c.6G>A

Surrounding Variants

6 papers

NM_001711.6

p.W2*

c.5G>A

1 paper

NM_001711.6

p.P3H

c.8C>A

1 paper

NM_001711.6

p.M1delins

c.3delinsTTTTAGATCCATATTTTAG

1 paper

NM_001711.6

p.L4L

c.12G>C

1 paper

NM_001711.6

p.S9T

c.25T>A

1 paper

NM_001711.6

p.L10_A12ins1

c.28_36dup9

1 paper

NM_001711.6

p.A16delFs

c.46delG

1 paper

NM_001711.6

p.A16fs

c.46_47fs

1 paper

NM_001711.6

p.L17L

c.51G>A

1 paper

NM_001711.6

p.E20insFs

c.59_60insAA

1 paper

NM_001711.6

p.Q21fs

c.61_62fs

1 paper

NM_001711.6

p.W25*

c.74G>A