Varaico: Literature-Extracted Genetic Variants

SORL1

405 papers

RefSeq Summary

This gene encodes a mosaic protein that belongs to at least two families: the vacuolar protein sorting 10 (VPS10) domain-containing receptor family, and the low density lipoprotein receptor (LDLR) fam...

Pfam Domains

Sortilin-Vps10aa 133–586UCSCSortilin, neurotensin receptor 3,

Sortilin_Caa 588–752UCSCSortilin, neurotensin receptor 3, C-terminal

Ldl_recept_baa 888–929UCSCLow-density lipoprotein receptor repeat class B

Ldl_recept_baa 931–970UCSCLow-density lipoprotein receptor repeat class B

Ldl_recept_aaa 1076–1112UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 1115–1153UCSCLow-density lipoprotein receptor domain class A

Gene Aliases

HGNC Name

sortilin related receptor 1

HGNC Previous Symbol

C11orf32

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

15 papers

NM_003105.6

p.V1967I

c.5899G>A

Surrounding Variants

1 paper

NM_003105.6

p.A1968_D1977del10

c.5902_5930del30

1 paper

NM_003105.6

p.Y1965*

c.5895T>A

1 paper

NM_003105.6

p.Y1965*

c.5895T>G

1 paper

NM_003105.6

p.L1963_L1964Splc

c.5890-2A>T

1 paper

NM_003105.6

p.D1971N

c.5911G>A

1 paper

NM_003105.6

p.L1972V

c.5914C>G

1 paper

NM_003105.6

p.K1975fs

c.5923_5924fs

1 paper

NM_003105.6

p.S1979N

c.5936G>A

1 paper

NM_003105.6

p.R1985C

c.5953C>T

1 paper

NM_003105.6

p.R1985H

c.5954G>A

1 paper

NM_003105.6

p.V1989A

c.5966T>C

1 paper

NM_003105.6

p.L1993F

c.5977C>T