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.D1472N

c.4414G>A

Surrounding Variants

1 paper

NM_005529.7

p.R1470R

c.4408C>A

9 papers

NM_005529.7

p.R1478C

c.4432C>T

7 papers

NM_005529.7

p.L1491_L1492del1

c.4473_4475delAGG

2 papers

NM_005529.7

p.F1497I

c.4489T>A

1 paper

NM_005529.7

p.S1498F

c.4493C>T

14 papers

NM_005529.7

p.A1503V

c.4508C>T

7 papers

NM_005529.7

p.A1504V

c.4511C>T

1 paper

NM_005529.7

p.S1507C

c.4519A>T

1 paper

NM_005529.7

p.S1510R

c.4528A>C

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.P1516L

c.4547C>T