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

1–12 of 156 variants

3 papers

NM_052918.5

p.P405R

c.1214C>G

3 papers

NM_052918.5

p.V924M

c.2770G>A

2 papers

NM_052918.5

p.A28T

c.82G>A

2 papers

NM_052918.5

p.T164M

c.491C>T

2 papers

NM_052918.5

p.T168M

c.503C>T

2 papers

NM_052918.5

p.D212N

c.634G>A

2 papers

NM_052918.5

p.K223N

c.669A>T

2 papers

NM_052918.5

p.K223N

c.669A>C

2 papers

NM_052918.5

p.Y232C

c.695A>G

2 papers

NM_052918.5

p.E311Q

c.931G>C

2 papers

NM_052918.5

p.T491I

c.1472C>T

2 papers

NM_052918.5

p.V893M

c.2677G>A