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.T1037S

c.3109A>T

Surrounding Variants

2 papers

NM_014978.3

p.T1037S

c.3110C>G

1 paper

NM_014978.3

p.D1042N

c.3124G>A

1 paper

NM_014978.3

p.L1045I

c.3133C>A

1 paper

NM_014978.3

p.I1046V

c.3136A>G

1 paper

NM_014978.3

p.N1065D

c.3193A>G

1 paper

NM_014978.3

p.E1068K

c.3202G>A

1 paper

NM_014978.3

p.Q1079*

c.3235C>T

1 paper

NM_014978.3

p.L1084Q

c.3251T>A

1 paper

NM_014978.3

p.A1087G

c.3260C>G

1 paper

NM_014978.3

p.K1098E

c.3292A>G

1 paper

NM_014978.3

p.T1111M

c.3332C>T

1 paper

NM_014978.3

p.A1113Splc

c.3337+2T>G