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

5 papers

NM_001291860.2

p.A704A

c.2112C>T

NM_005529.7

p.A703A

c.2109C>T

Surrounding Variants

1 paper

NM_005529.7

p.A703ins1

c.2107_2108insAGG

4 papers

NM_005529.7

p.S704S

c.2112C>T

1 paper

NM_005529.7

p.G706R

c.2116G>A

1 paper

NM_005529.7

p.Y698H

c.2092T>C

1 paper

NM_005529.7

p.Q695*

c.2083C>T

1 paper

NM_005529.7

p.I694V

c.2080A>G

3 papers

NM_005529.7

p.V692M

c.2074G>A

1 paper

NM_005529.7

p.T717T

c.2151C>T

1 paper

NM_005529.7

p.L683_Q684delFs

c.2049_2050delGC

1 paper

NM_005529.7

p.Q684*

c.2050C>T

1 paper

NM_005529.7

p.R724G

c.2170C>G

2 papers

NM_005529.7

p.E681K

c.2041G>A