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.E862K

c.2584G>A

Surrounding Variants

1 paper

NM_020777.3

p.V850M

c.2548G>A

1 paper

NM_020777.3

p.E843K

c.2527G>A

1 paper

NM_020777.3

p.Y842Y

c.2526C>T

1 paper

NM_020777.3

p.G835E

c.2504G>A

1 paper

NM_020777.3

p.F824L

c.2472C>A

1 paper

NM_020777.3

p.F824L

c.2472C>G

1 paper

NM_020777.3

p.F824L

c.2470T>C

1 paper

NM_020777.3

p.P872S

c.2614C>T

2 papers

NM_020777.3

p.V881I

c.2641G>A

1 paper

NM_020777.3

p.Q915_P916Splc

c.2745+5G>A

1 paper

NM_020777.3

p.D933N

c.2797G>A

1 paper

NM_020777.3

p.A941T

c.2821G>A