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.P1534A

c.4600C>G

Surrounding Variants

5 papers

NM_005529.7

p.P1534R

c.4601C>G

16 papers

NM_005529.7

p.C1532Y

c.4595G>A

1 paper

NM_005529.7

p.E1528K

c.4582G>A

1 paper

NM_005529.7

p.V1527M

c.4579G>A

1 paper

NM_005529.7

p.E1526K

c.4576G>A

1 paper

NM_005529.7

p.S1519*

c.4556C>G

1 paper

NM_005529.7

p.S1519*

c.4556C>A

1 paper

NM_005529.7

p.P1518R

c.4553C>G

1 paper

NM_005529.7

p.P1516L

c.4547C>T

1 paper

NM_005529.7

p.S1510R

c.4530C>G

1 paper

NM_005529.7

p.S1510R

c.4530C>A

1 paper

NM_005529.7

p.S1510R

c.4528A>C