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_001291860.2

p.D775E

c.2325C>A

Surrounding Variants

1 paper

NM_001291860.2

p.D775E

c.2325C>G

2 papers

NM_005529.7

p.G778D

c.2333G>A

2 papers

NM_005529.7

p.H779Y

c.2335C>T

2 papers

NM_005529.7

p.L781_N782Splc

c.2343+1G>T

2 papers

NM_005529.7

p.L781_N782Splc

c.2343+1G>A

11 papers

NM_005529.7

p.N765S

c.2294A>G

NM_001291860.2

p.N766S

c.2297A>G

1 paper

NM_005529.7

p.R751L

c.2252G>T

1 paper

NM_005529.7

p.R751Q

c.2252G>A

1 paper

NM_005529.7

p.F749L

c.2247C>A

2 papers

NM_005529.7

p.H748Q

c.2244C>G

2 papers

NM_005529.7

p.H748Q

c.2244C>A

1 paper

NM_005529.7

p.C742_S744del3

c.2224_2231del9