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

2 papers

NM_001711.6

p.K147Fs

c.441delinsAAFs

Surrounding Variants

2 papers

NM_001711.6

p.N148fs

c.442_443fs

4 papers

NM_001711.6

p.K147E

c.439A>G

1 paper

NM_001711.6

p.L150P

c.449T>C

1 paper

NM_001711.6

p.R138Q

c.413G>A

1 paper

NM_001711.6

p.L137Q

c.410T>A

1 paper

NM_001711.6

p.L161R

c.482T>G

1 paper

NM_001711.6

p.I166V

c.496A>G

1 paper

NM_001711.6

p.V174fs

c.520_521fs

1 paper

NM_001711.6

p.P175R

c.524C>G

1 paper

NM_001711.6

p.L119L

c.357C>T

1 paper

NM_001711.6

p.S180_G181insFs

c.540_541insT

3 papers

NM_001711.6

p.S180S

c.540C>T