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

1 paper

NM_052918.5

p.G2V

c.5G>T

Surrounding Variants

1 paper

NM_052918.5

p.A12P

c.34G>C

1 paper

NM_052918.5

p.L23del1

c.67_68delGAG

2 papers

NM_052918.5

p.A28T

c.82G>A

1 paper

NM_052918.5

p.C37F

c.110G>T

1 paper

NM_052918.5

p.C38Y

c.113G>A

1 paper

NM_052918.5

p.T52I

c.155C>T

1 paper

NM_052918.5

p.R61L

c.182G>T

1 paper

NM_052918.5

p.P62L

c.185C>T

1 paper

NM_052918.5

p.L72I

c.214C>A

1 paper

NM_052918.5

p.V80L

c.238G>T

1 paper

NM_052918.5

p.G83E

c.248G>A

1 paper

NM_052918.5

p.A86E

c.257C>A