Varaico: Literature-Extracted Genetic Variants

SORCS2

85 papers

RefSeq Summary

This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 pro...

Pfam Domains

Sortilin-Vps10aa 179–611UCSCSortilin, neurotensin receptor 3,

Sortilin_Caa 613–775UCSCSortilin, neurotensin receptor 3, C-terminal

PKDaa 782–869UCSCPKD domain

Gene Aliases

HGNC Name

sortilin related VPS10 domain containing receptor 2

HGNC Alias Symbol

KIAA1329

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020777.3

p.R1030K

c.3089G>A

Surrounding Variants

1 paper

NM_020777.3

p.R1030R

c.3090G>A

1 paper

NM_020777.3

p.V1019L

c.3055G>C

1 paper

NM_020777.3

p.V1019L

c.3055G>T

1 paper

NM_020777.3

p.L1017L

c.3051G>T

1 paper

NM_020777.3

p.K994_E995Splc

c.2983-4G>A

1 paper

NM_020777.3

p.D983D

c.2949C>T

2 papers

NM_020777.3

p.T977N

c.2930C>A

1 paper

NM_020777.3

p.A941T

c.2821G>A

1 paper

NM_020777.3

p.D933N

c.2797G>A

1 paper

NM_020777.3

p.R1037K

c.3110G>A

1 paper

NM_020777.3

p.A1039P

c.3115G>C

1 paper

NM_020777.3

p.A1047T

c.3139G>A