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

2 papers

NM_005529.7

p.Y616F

c.1847A>T

Surrounding Variants

1 paper

NM_005529.7

p.R619C

c.1855C>T

1 paper

NM_005529.7

p.G612C

c.1834G>T

3 papers

NM_005529.7

p.E621*

c.1861G>T

1 paper

NM_005529.7

p.R619_Y620del0

c.1855_1860del6

1 paper

NM_005529.7

p.G611C

c.1831G>T

1 paper

NM_005529.7

p.A623V

c.1868C>T

1 paper

NM_005529.7

p.R624C

c.1870C>T

1 paper

NM_005529.7

p.D608E

c.1824C>G

1 paper

NM_005529.7

p.R624H

c.1871G>A

1 paper

NM_005529.7

p.V607M

c.1819G>A

13 papers

NM_001291860.2

p.M639V

c.1915A>G

NM_005529.7

p.M638V

c.1912A>G

1 paper

NM_005529.7

p.G639R

c.1915G>C