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.K968N

c.2904G>C

Surrounding Variants

1 paper

NM_052918.5

p.K968N

c.2904G>T

1 paper

NM_052918.5

p.W926*

c.2778G>A

1 paper

NM_052918.5

p.W926*

c.2777G>A

3 papers

NM_052918.5

p.V924M

c.2770G>A

1 paper

NM_052918.5

p.W914*

c.2742G>A

1 paper

NM_052918.5

p.W914*

c.2741G>A

1 paper

NM_052918.5

p.A909V

c.2726C>T

2 papers

NM_052918.5

p.V893M

c.2677G>A

1 paper

NM_052918.5

p.D993E

c.2979C>G

1 paper

NM_052918.5

p.D993E

c.2979C>A

1 paper

NM_052918.5

p.R1003Q

c.3008G>A