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

11 papers

NM_005529.7

p.V192Splc

c.574+481C>T

Surrounding Variants

1 paper

NM_005529.7

p.V192M

c.574G>A

1 paper

NM_005529.7

p.G190C

c.568G>T

1 paper

NM_005529.7

p.L189insFs

c.566dupT

1 paper

NM_005529.7

p.R188P

c.563G>C

1 paper

NM_005529.7

p.R188H

c.563G>A

2 papers

NM_005529.7

p.R188C

c.562C>T

1 paper

NM_005529.7

p.R187*

c.559C>T

1 paper

NM_005529.7

p.F186I

c.556T>A

1 paper

NM_005529.7

p.G183R

c.547G>C

1 paper

NM_005529.7

p.G183R

c.547G>A

1 paper

NM_005529.7

p.Q182*

c.544C>T

1 paper

NM_005529.7

p.Q182insFs

c.544_545ins5