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.V3868M

c.11602G>A

Surrounding Variants

2 papers

NM_005529.7

p.S3864fs

c.11590_11591fs

2 papers

NM_005529.7

p.S3862_E3863delFs

c.11586_11587delCA

1 paper

NM_005529.7

p.T3876T

c.11628C>T

1 paper

NM_005529.7

p.G3856D

c.11567G>A

1 paper

NM_005529.7

p.T3876_R3879del4

c.11626_11636del12

1 paper

NM_005529.7

p.Q3854_N3855Splc

c.11563-16G>A

6 papers

NM_005529.7

p.E3891Splc

c.11671+5G>A

1 paper

NM_005529.7

p.Q3854_N3855Splc

c.11562+2T>G

4 papers

NM_005529.7

p.Q3854_N3855Splc

c.11562+2T>A

1 paper

NM_005529.7

p.Q3854Q

c.11562G>A

1 paper

NM_005529.7

p.R3849Q

c.11546G>A

1 paper

NM_005529.7

p.H3840Y

c.11518C>T