Varaico: Literature-Extracted Genetic Variants

SORCS2

85 papers

RefSeq Summary

This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 pro...

Pfam Domains

Sortilin-Vps10aa 179–611UCSCSortilin, neurotensin receptor 3,

Sortilin_Caa 613–775UCSCSortilin, neurotensin receptor 3, C-terminal

PKDaa 782–869UCSCPKD domain

Gene Aliases

HGNC Name

sortilin related VPS10 domain containing receptor 2

HGNC Alias Symbol

KIAA1329

Papers

RefSeq ID

Protein change

DNA change

1–12 of 102 variants

3 papers

NM_020777.3

p.S484I

c.1451G>T

2 papers

NM_020777.3

p.M151V

c.451A>G

2 papers

NM_020777.3

p.T202T

c.606C>T

2 papers

NM_020777.3

p.R631C

c.1891C>T

2 papers

NM_020777.3

p.R666C

c.1996C>T

2 papers

NM_020777.3

p.E700K

c.2098G>A

2 papers

NM_020777.3

p.R702Q

c.2105G>A

2 papers

NM_020777.3

p.S716P

c.2146T>C

2 papers

NM_020777.3

p.V881I

c.2641G>A

2 papers

NM_020777.3

p.T977N

c.2930C>A

1 paper

NM_020777.3

p.A19D

c.56C>A

1 paper

NM_020777.3

p.P25P

c.75G>T