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

Selected Variant

1 paper

NM_020777.3

p.A19D

c.56C>A

Surrounding Variants

1 paper

NM_020777.3

p.P25P

c.75G>T

1 paper

NM_020777.3

p.R34_P35delFs

c.100_103del4

1 paper

NM_020777.3

p.A48E

c.143C>A

1 paper

NM_020777.3

p.T89A

c.265A>G

1 paper

NM_020777.3

p.P100_G103del4

c.298_308del12

1 paper

NM_020777.3

p.E106Q

c.316G>C

1 paper

NM_020777.3

p.G108fs

c.322_323fs

1 paper

NM_020777.3

p.T146R

c.437C>G

2 papers

NM_020777.3

p.M151V

c.451A>G