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

1–12 of 167 variants

2 papers

NM_014978.3

p.R12K

c.35G>A

2 papers

NM_014978.3

p.A386V

c.1157C>T

2 papers

NM_014978.3

p.T828K

c.2483C>A

2 papers

NM_014978.3

p.T1037S

c.3110C>G

2 papers

NM_014978.3

p.R1199W

c.3595C>T

1 paper

NM_014978.3

p.G11D

c.32G>A

1 paper

NM_014978.3

p.P13T

c.37C>A

1 paper

NM_014978.3

p.R19W

c.55C>T

1 paper

NM_014978.3

p.G32A

c.95G>C

1 paper

NM_014978.3

p.I35_P46del0

c.103_138del36

1 paper

NM_014978.3

p.I35_T40del0

c.105_119del15

1 paper

NM_014978.3

p.T36del1

c.106_108delACT