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.T1022_P1023insT

c.3064_3068ins3

Surrounding Variants

1 paper

NM_005529.7

p.T1022A

c.3064A>G

11 papers

NM_005529.7

p.P1019L

c.3056C>T

NM_001291860.2

p.P1020L

c.3059C>T

5 papers

NM_005529.7

p.P1019S

c.3055C>T

1 paper

NM_005529.7

p.L1029S

c.3086T>C

1 paper

NM_005529.7

p.L1029F

c.3087G>T

1 paper

NM_005529.7

p.L1029F

c.3087G>C

1 paper

NM_005529.7

p.T1012_V1013insT

c.3034_3038ins3

1 paper

NM_005529.7

p.R1010H

c.3029G>A

1 paper

NM_005529.7

p.Q1045*

c.3133C>T

2 papers

NM_005529.7

p.G1050S

c.3148G>A

1 paper

NM_005529.7

p.G1050D

c.3149G>A

1 paper

NM_005529.7

p.P1052H

c.3155C>A