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.G571C

c.1711G>T

Surrounding Variants

1 paper

NM_020777.3

p.G571S

c.1711G>A

1 paper

NM_020777.3

p.H562N

c.1684C>A

1 paper

NM_020777.3

p.D609D

c.1827C>T

1 paper

NM_020777.3

p.S613C

c.1837A>T

1 paper

NM_020777.3

p.R555Q

c.1664G>A

1 paper

NM_020777.3

p.W554*

c.1662G>A

1 paper

NM_020777.3

p.W554*

c.1661G>A

1 paper

NM_020777.3

p.I546V

c.1636A>G

1 paper

NM_020777.3

p.E542K

c.1624G>A

1 paper

NM_020777.3

p.Q536E

c.1606C>G

2 papers

NM_020777.3

p.R631C

c.1891C>T

1 paper

NM_020777.3

p.D633D

c.1899T>C