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.A156T

c.466G>A

Surrounding Variants

1 paper

NM_005529.7

p.A156G

c.467C>G

1 paper

NM_005529.7

p.A156insFs

c.467_468insT

1 paper

NM_005529.7

p.A156_D157insFs

c.468_469insT

4 papers

NM_005529.7

p.G158G

c.474G>T

1 paper

NM_005529.7

p.E153V

c.458A>T

1 paper

NM_005529.7

p.G151G

c.453C>T

1 paper

NM_005529.7

p.G151V

c.452G>T

1 paper

NM_005529.7

p.V150M

c.448G>A

1 paper

NM_005529.7

p.Q162*

c.484C>T

3 papers

NM_005529.7

p.L148L

c.444G>C

1 paper

NM_005529.7

p.E163G

c.488A>G

1 paper

NM_005529.7

p.Q162_E163ins1

c.486_487insGGC