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

6 papers

NM_003105.6

p.D1105H

c.3313G>C

Surrounding Variants

1 paper

NM_003105.6

p.C1103Y

c.3308G>A

2 papers

NM_003105.6

p.C1103fs

c.3307_3308fs

1 paper

NM_003105.6

p.S1107N

c.3320G>A

2 papers

NM_003105.6

p.D1102delFs

c.3306delC

2 papers

NM_003105.6

p.D1108N

c.3322G>A

1 paper

NM_003105.6

p.D1102N

c.3304G>A

1 paper

NM_003105.6

p.N1101S

c.3302A>G

2 papers

NM_003105.6

p.D1100N

c.3298G>A

14 papers

NM_003105.6

p.F1099L

c.3297T>A

14 papers

NM_003105.6

p.F1099L

c.3297T>G

14 papers

NM_003105.6

p.F1099L

c.3295T>C

2 papers

NM_003105.6

p.P1113S

c.3337C>T