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.R3646H

c.10937G>A

Surrounding Variants

1 paper

NM_005529.7

p.G3648V

c.10943G>T

1 paper

NM_005529.7

p.T3644I

c.10931C>T

1 paper

NM_005529.7

p.T3642I

c.10925C>T

3 papers

NM_005529.7

p.V3640I

c.10918G>A

1 paper

NM_005529.7

p.L3656delFs

c.10966delG

1 paper

NM_005529.7

p.L3656fs

c.10966_10967fs

1 paper

NM_005529.7

p.D3635N

c.10903G>A

1 paper

NM_005529.7

p.R3632Q

c.10895G>A

2 papers

NM_001291860.2

p.R3633*

c.10897C>T

NM_005529.7

p.R3632*

c.10894C>T

1 paper

NM_005529.7

p.E3622D

c.10866G>T

1 paper

NM_005529.7

p.E3622D

c.10866G>C

1 paper

NM_005529.7

p.R3620H

c.10859G>A