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.R866C

c.2596C>T

Surrounding Variants

1 paper

NM_052918.5

p.G876C

c.2626G>T

1 paper

NM_052918.5

p.G854A

c.2561G>C

1 paper

NM_052918.5

p.A880T

c.2638G>A

1 paper

NM_052918.5

p.M851fs

c.2551_2552fs

1 paper

NM_052918.5

p.M851L

c.2551A>T

1 paper

NM_052918.5

p.M851L

c.2551A>C

1 paper

NM_052918.5

p.S850insFs

c.2550dupC

1 paper

NM_052918.5

p.Y845Y

c.2535C>T

1 paper

NM_052918.5

p.C888Splc

c.2662+2T>A

1 paper

NM_052918.5

p.C888Splc

c.2662+37A>G

1 paper

NM_052918.5

p.T831P

c.2491A>C

1 paper

NM_052918.5

p.E825_G826Splc

c.2476-7388G>C