Varaico: Literature-Extracted Genetic Variants

HSPG2

1,307 papers

RefSeq Summary

This gene encodes the perlecan protein, which consists of a core protein to which three long chains of glycosaminoglycans (heparan sulfate or chondroitin sulfate) are attached. The perlecan protein is...

Pfam Domains

Ldl_recept_aaa 197–234UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 283–319UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 323–359UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 366–403UCSCLow-density lipoprotein receptor domain class A

Ig_3aa 405–483UCSCImmunoglobulin domain

Laminin_Baa 595–729UCSCLaminin B (Domain IV)

Gene Aliases

HGNC Name

heparan sulfate proteoglycan 2

HGNC Previous Symbol

SJS1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_005529.7

p.R3530W

c.10588C>T

Surrounding Variants

1 paper

NM_005529.7

p.R3530Q

c.10589G>A

1 paper

NM_005529.7

p.P3531S

c.10591C>T

1 paper

NM_005529.7

p.G3532D

c.10595G>A

2 papers

NM_005529.7

p.G3537R

c.10609G>C

2 papers

NM_005529.7

p.G3537R

c.10609G>A

1 paper

NM_005529.7

p.G3538R

c.10612G>C

1 paper

NM_005529.7

p.G3538S

c.10612G>A

2 papers

NM_005529.7

p.V3539V

c.10617C>T

2 papers

NM_005529.7

p.V3540V

c.10620C>T

1 paper

NM_005529.7

p.D3515A

c.10544A>C

1 paper

NM_005529.7

p.V3545L

c.10633G>T

1 paper

NM_005529.7

p.V3545L

c.10633G>C