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

1–12 of 1616 variants

44 papers

NM_003105.6

p.A528T

c.1582G>A

38 papers

NM_003105.6

p.E270K

c.808G>A

31 papers

NM_003105.6

p.G511R

c.1531G>A

31 papers

NM_003105.6

p.G511R

c.1531G>C

23 papers

NM_003105.6

p.D2065V

c.6194A>T

19 papers

NM_003105.6

p.T947M

c.2840C>T

17 papers

NM_003105.6

p.V2097I

c.6289G>A

15 papers

NM_003105.6

p.Y1816C

c.5447A>G

15 papers

NM_003105.6

p.V1967I

c.5899G>A

14 papers

NM_003105.6

p.N371T

c.1112A>C

14 papers

NM_003105.6

p.F1099L

c.3295T>C

14 papers

NM_003105.6

p.F1099L

c.3297T>A