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

1 paper

NM_003105.6

p.G1088E

c.3263G>A

Surrounding Variants

1 paper

NM_003105.6

p.G1088R

c.3262G>A

1 paper

NM_003105.6

p.G1088R

c.3262G>C

1 paper

NM_003105.6

p.N1089I

c.3266A>T

1 paper

NM_003105.6

p.C1090F

c.3269G>T

2 papers

NM_003105.6

p.I1091V

c.3271A>G

2 papers

NM_003105.6

p.R1084H

c.3251G>A

4 papers

NM_003105.6

p.R1084C

c.3250C>T

2 papers

NM_003105.6

p.I1094V

c.3280A>G

1 paper

NM_003105.6

p.Q1082K

c.3244C>A

1 paper

NM_003105.6

p.N1081N

c.3243C>T

2 papers

NM_003105.6

p.W1095C

c.3285G>C

2 papers

NM_003105.6

p.W1095C

c.3285G>T