Varaico: Literature-Extracted Genetic Variants

SORCS1

124 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 205–635UCSCSortilin, neurotensin receptor 3,

Sortilin_Caa 637–792UCSCSortilin, neurotensin receptor 3, C-terminal

PKDaa 799–886UCSCPKD domain

Gene Aliases

HGNC Name

sortilin related VPS10 domain containing receptor 1

HGNC Previous Name

sortilin-related VPS10 domain containing receptor 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_052918.5

p.K223N

c.669A>C

Surrounding Variants

2 papers

NM_052918.5

p.K223N

c.669A>T

1 paper

NM_052918.5

p.G225D

c.674G>A

1 paper

NM_052918.5

p.T216A

c.646A>G

2 papers

NM_052918.5

p.Y232C

c.695A>G

2 papers

NM_052918.5

p.D212N

c.634G>A

1 paper

NM_052918.5

p.K242_I243Splc

c.726+4A>C