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

1–12 of 86 variants

6 papers

NM_001711.6

p.W2*

c.5G>A

6 papers

NM_001711.6

p.W2*

c.6G>A

6 papers

NM_001711.6

p.G259V

c.776G>T

6 papers

NM_001711.6

p.Q303P

c.908A>C

5 papers

NM_001711.6

p.G80S

c.238G>A

4 papers

NM_001711.6

p.K147E

c.439A>G

3 papers

NM_001711.6

p.S47S

c.141G>A

3 papers

NM_001711.6

p.S180S

c.540C>T

3 papers

NM_001711.6

p.L307P

c.920T>C

2 papers

NM_001711.6

p.P57T

c.169C>A

2 papers

NM_001711.6

p.K86R

c.257A>G

2 papers

NM_001711.6

p.K147Fs

c.441delinsAAFs