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.E560fs

c.1678_1679fs

Surrounding Variants

1 paper

NM_052918.5

p.D565D

c.1695C>T

1 paper

NM_052918.5

p.S571P

c.1711T>C

1 paper

NM_052918.5

p.S554L

c.1661C>T

1 paper

NM_052918.5

p.A542V

c.1625C>T

1 paper

NM_052918.5

p.L591L

c.1773G>T

1 paper

NM_052918.5

p.I607M

c.1821T>G

1 paper

NM_052918.5

p.L610V

c.1828C>G

1 paper

NM_052918.5

p.W620*

c.1859G>A

1 paper

NM_052918.5

p.W620*

c.1860G>A

1 paper

NM_052918.5

p.Y623C

c.1868A>G

1 paper

NM_052918.5

p.E641E

c.1923A>G

1 paper

NM_052918.5

p.H651Q

c.1953C>G