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.M692T

c.2075T>C

Surrounding Variants

1 paper

NM_052918.5

p.E688delFs

c.2062delC

1 paper

NM_052918.5

p.R705W

c.2113C>T

1 paper

NM_052918.5

p.K706N

c.2118G>T

1 paper

NM_052918.5

p.K706N

c.2118G>C

1 paper

NM_052918.5

p.V722A

c.2165T>C

1 paper

NM_052918.5

p.Q686_G687Splc

c.2058+1G>A

1 paper

NM_052918.5

p.Q682H

c.2046G>T

1 paper

NM_052918.5

p.Q682H

c.2046G>C

1 paper

NM_052918.5

p.R672L

c.2015G>T

1 paper

NM_052918.5

p.H651Q

c.1953C>G

1 paper

NM_052918.5

p.H651Q

c.1953C>A

1 paper

NM_052918.5

p.Y732C

c.2195A>G