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

10 papers

NM_005529.7

p.R3736Splc

c.11208-7G>A

Surrounding Variants

2 papers

NM_005529.7

p.R3736W

c.11206C>T

2 papers

NM_005529.7

p.R3736Q

c.11207G>A

1 paper

NM_005529.7

p.R3736_F3737insFs

c.11208_11209ins5

1 paper

NM_005529.7

p.F3737fs

c.11209_11210fs

1 paper

NM_005529.7

p.R3736Splc

c.11208-19G>A

1 paper

NM_005529.7

p.G3815S

c.11443G>A

1 paper

NM_005529.7

p.E3822K

c.11464G>A

3 papers

NM_005529.7

p.E3828K

c.11482G>A

1 paper

NM_005529.7

p.E3829K

c.11485G>A

1 paper

NM_005529.7

p.V3831I

c.11491G>A

1 paper

NM_005529.7

p.H3840Y

c.11518C>T

1 paper

NM_005529.7

p.R3849Q

c.11546G>A