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.T3667M

c.11000C>T

Surrounding Variants

1 paper

NM_005529.7

p.V3663L

c.10987G>T

1 paper

NM_005529.7

p.V3663L

c.10987G>C

2 papers

NM_005529.7

p.F3673S

c.11018T>C

9 papers

NM_005529.7

p.R3661Q

c.10982G>A

1 paper

NM_005529.7

p.L3674P

c.11021T>C

1 paper

NM_005529.7

p.R3693W

c.11077C>T

1 paper

NM_005529.7

p.D3695Y

c.11083G>T

1 paper

NM_005529.7

p.S3696L

c.11087C>T

1 paper

NM_005529.7

p.A3697P

c.11089G>C

1 paper

NM_005529.7

p.A3697V

c.11090C>T

1 paper

NM_005529.7

p.L3656fs

c.10966_10967fs

1 paper

NM_005529.7

p.L3656delFs

c.10966delG