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.R832Q

c.2495G>A

Surrounding Variants

1 paper

NM_014978.3

p.R832L

c.2495G>T

1 paper

NM_014978.3

p.A835V

c.2504C>T

2 papers

NM_014978.3

p.T828K

c.2483C>A

1 paper

NM_014978.3

p.E848K

c.2542G>A

1 paper

NM_014978.3

p.E848D

c.2544G>C

1 paper

NM_014978.3

p.E848D

c.2544G>T

1 paper

NM_014978.3

p.V867A

c.2600T>C

1 paper

NM_014978.3

p.A870T

c.2608G>A

1 paper

NM_014978.3

p.G878D

c.2633G>A

1 paper

NM_014978.3

p.E896D

c.2688G>C

1 paper

NM_014978.3

p.E896D

c.2688G>T

1 paper

NM_014978.3

p.D902N

c.2704G>A