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

1 paper

NM_005529.7

p.Y177C

c.530A>G

Surrounding Variants

1 paper

NM_005529.7

p.Y177S

c.530A>C

1 paper

NM_005529.7

p.V178D

c.533T>A

3 papers

NM_005529.7

p.A175V

c.524C>T

1 paper

NM_005529.7

p.A175D

c.524C>A

1 paper

NM_005529.7

p.A175P

c.523G>C

1 paper

NM_005529.7

p.A175T

c.523G>A

1 paper

NM_005529.7

p.V174_A175insFs

c.522_523insC

1 paper

NM_005529.7

p.P181S

c.541C>T

2 papers

NM_005529.7

p.S173F

c.518C>T

2 papers

NM_005529.7

p.S173C

c.518C>G

1 paper

NM_005529.7

p.Q182*

c.544C>T

1 paper

NM_005529.7

p.Q182insFs

c.544_545ins5