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.E1561Q

c.4681G>C

Surrounding Variants

1 paper

NM_005529.7

p.G1552R

c.4654G>A

9 papers

NM_005529.7

p.R1550C

c.4648C>T

1 paper

NM_005529.7

p.P1574L

c.4721C>T

9 papers

NM_005529.7

p.S1580S

c.4740G>A

1 paper

NM_005529.7

p.S1580del1

c.4738_4739delCGA

1 paper

NM_005529.7

p.Q1542_D1543Splc

c.4627-8G>A

6 papers

NM_005529.7

p.S1580_Q1581Splc

c.4740+5G>A

5 papers

NM_005529.7

p.P1534R

c.4601C>G

1 paper

NM_005529.7

p.P1534A

c.4600C>G

16 papers

NM_005529.7

p.C1532Y

c.4595G>A

1 paper

NM_005529.7

p.E1528K

c.4582G>A

1 paper

NM_005529.7

p.V1527M

c.4579G>A