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.Q1062H

c.3186A>T

Surrounding Variants

1 paper

NM_005529.7

p.Q1062H

c.3186A>C

1 paper

NM_005529.7

p.W1064*

c.3191G>A

1 paper

NM_005529.7

p.W1064*

c.3192G>A

1 paper

NM_005529.7

p.Q1065Q

c.3195G>A

4 papers

NM_005529.7

p.R1066Q

c.3197G>A

1 paper

NM_005529.7

p.D1068N

c.3202G>A

1 paper

NM_005529.7

p.R1074_E1075del2

c.3220_3224del6

1 paper

NM_001291860.2

p.L1088P

c.3263T>C

7 papers

NM_005529.7

p.L1088P

c.3263T>C

1 paper

NM_005529.7

p.R1090Q

c.3269G>A

1 paper

NM_005529.7

p.Y1093*

c.3279C>A

1 paper

NM_005529.7

p.R1060Q

c.3179G>A