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.R353H

c.1058G>A

Surrounding Variants

1 paper

NM_001711.6

p.Q362delFs

c.1086delG

1 paper

NM_001711.6

p.Y344H

c.1030T>C

1 paper

NM_001711.6

p.G334D

c.1001G>A

1 paper

NM_001711.6

p.N333N

c.999C>T

1 paper

NM_001711.6

p.M323V

c.967A>G

1 paper

NM_001711.6

p.F320F

c.960C>T

1 paper

NM_001711.6

p.S309Y

c.926C>A

3 papers

NM_001711.6

p.L307P

c.920T>C

1 paper

NM_001711.6

p.Q303_V304Splc

c.910-1G>A

6 papers

NM_001711.6

p.Q303P

c.908A>C

1 paper

NM_001711.6

p.L299H

c.896T>A

1 paper

NM_001711.6

p.V292M

c.874G>A