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.V144D

c.431T>A

Surrounding Variants

1 paper

NM_005529.7

p.V144delFs

c.431_432delAA

1 paper

NM_005529.7

p.G142C

c.424G>T

1 paper

NM_005529.7

p.G142S

c.424G>A

1 paper

NM_005529.7

p.E147D

c.441G>C

1 paper

NM_005529.7

p.L148L

c.442C>T

3 papers

NM_005529.7

p.L148L

c.444G>C

1 paper

NM_005529.7

p.E139G

c.416A>G

1 paper

NM_005529.7

p.K138_E139insFs

c.414_415insA

1 paper

NM_005529.7

p.V150M

c.448G>A

1 paper

NM_005529.7

p.K138Splc

c.414-1G>A

1 paper

NM_005529.7

p.K138Q

c.412A>C

1 paper

NM_005529.7

p.G151V

c.452G>T