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.Q505L

c.1514A>T

Surrounding Variants

1 paper

NM_052918.5

p.R502H

c.1505G>A

1 paper

NM_052918.5

p.D514N

c.1540G>A

2 papers

NM_052918.5

p.T491I

c.1472C>T

1 paper

NM_052918.5

p.K490M

c.1469A>T

1 paper

NM_052918.5

p.K484R

c.1451A>G

1 paper

NM_052918.5

p.G477*

c.1429G>T

1 paper

NM_052918.5

p.A542V

c.1625C>T

1 paper

NM_052918.5

p.S554L

c.1661C>T

1 paper

NM_052918.5

p.E560fs

c.1678_1679fs

1 paper

NM_052918.5

p.D565D

c.1695C>T

1 paper

NM_052918.5

p.S571P

c.1711T>C