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.E1195D

c.3585G>T

Surrounding Variants

1 paper

NM_014978.3

p.E1195D

c.3585G>C

1 paper

NM_014978.3

p.D1193Y

c.3577G>T

2 papers

NM_014978.3

p.R1199W

c.3595C>T

1 paper

NM_014978.3

p.P1188_E1189ins5

c.3564_3565ins15

1 paper

NM_014978.3

p.P1178H

c.3533C>A

1 paper

NM_014978.3

p.E1166K

c.3496G>A

1 paper

NM_014978.3

p.D1162Y

c.3484G>T

1 paper

NM_014978.3

p.W1152C

c.3456G>C

1 paper

NM_014978.3

p.W1152C

c.3456G>T

1 paper

NM_014978.3

p.P1151S

c.3451C>T

1 paper

NM_014978.3

p.E1211*

c.3631G>T

1 paper

NM_014978.3

p.E1215G

c.3644A>G