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.H668Y

c.2002C>T

Surrounding Variants

1 paper

NM_005529.7

p.H668N

c.2002C>A

1 paper

NM_005529.7

p.E667K

c.1999G>A

2 papers

NM_005529.7

p.V670I

c.2008G>A

1 paper

NM_005529.7

p.H671Y

c.2011C>T

2 papers

NM_005529.7

p.H671R

c.2012A>G

1 paper

NM_005529.7

p.S673T

c.2017T>A

3 papers

NM_005529.7

p.R675W

c.2023C>T

1 paper

NM_005529.7

p.P676S

c.2026C>T

2 papers

NM_005529.7

p.R679H

c.2036G>A

NM_001291860.2

p.R680H

c.2039G>A

1 paper

NM_005529.7

p.A680T

c.2038G>A

2 papers

NM_005529.7

p.E681K

c.2041G>A

1 paper

NM_005529.7

p.Q684*

c.2050C>T