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.H3469Y

c.10405C>T

Surrounding Variants

1 paper

NM_005529.7

p.G3470E

c.10409G>A

1 paper

NM_005529.7

p.W3472*

c.10415G>A

1 paper

NM_005529.7

p.W3472*

c.10416G>A

9 papers

NM_005529.7

p.R3452Q

c.10355G>A

7 papers

NM_005529.7

p.R3452*

c.10354C>T

1 paper

NM_005529.7

p.S3488S

c.10464G>A

1 paper

NM_005529.7

p.R3494Q

c.10481G>A

6 papers

NM_005529.7

p.V3500M

c.10498G>A

2 papers

NM_005529.7

p.V3501M

c.10501G>A

1 paper

NM_005529.7

p.E3507K

c.10519G>A

1 paper

NM_005529.7

p.E3507G

c.10520A>G

1 paper

NM_005529.7

p.A3512V

c.10535C>T