Varaico: Literature-Extracted Genetic Variants

SORCS3

123 papers

RefSeq Summary

This gene encodes a type-I receptor transmembrane protein that is a member of the vacuolar protein sorting 10 receptor family. Proteins of this family are defined by a vacuolar protein sorting 10 doma...

Pfam Domains

Sortilin-Vps10aa 228–658UCSCSortilin, neurotensin receptor 3,

Sortilin_Caa 660–816UCSCSortilin, neurotensin receptor 3, C-terminal

PKDaa 823–910UCSCPKD domain

Gene Aliases

HGNC Name

sortilin related VPS10 domain containing receptor 3

HGNC Alias Symbol

KIAA1059

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014978.3

p.Y400C

c.1199A>G

Surrounding Variants

1 paper

NM_014978.3

p.I403delFs

c.1207delA

1 paper

NM_014978.3

p.I403fs

c.1207_1208fs

1 paper

NM_014978.3

p.V396F

c.1186G>T

1 paper

NM_014978.3

p.L394M

c.1180C>A

2 papers

NM_014978.3

p.A386V

c.1157C>T

1 paper

NM_014978.3

p.A386S

c.1156G>T

1 paper

NM_014978.3

p.G383R

c.1147G>A

1 paper

NM_014978.3

p.G383R

c.1147G>C

1 paper

NM_014978.3

p.T380S

c.1139C>G

1 paper

NM_014978.3

p.T380S

c.1138A>T

1 paper

NM_014978.3

p.A377V

c.1130C>T

1 paper

NM_014978.3

p.Y365Splc

c.1094-3C>T