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

2 papers

NM_003105.6

p.Y934C

c.2801A>G

Surrounding Variants

1 paper

NM_003105.6

p.W935*

c.2804G>A

1 paper

NM_003105.6

p.W935*

c.2805G>A

2 papers

NM_003105.6

p.W932*

c.2796G>A

1 paper

NM_003105.6

p.T936M

c.2807C>T

2 papers

NM_003105.6

p.W932*

c.2795G>A

1 paper

NM_003105.6

p.T936T

c.2808G>A

1 paper

NM_003105.6

p.D930N

c.2788G>A

1 paper

NM_003105.6

p.D929D

c.2787C>T

1 paper

NM_003105.6

p.D929Y

c.2785G>T

1 paper

NM_003105.6

p.L940M

c.2818C>A

1 paper

NM_003105.6

p.C942G

c.2824T>G

1 paper

NM_003105.6

p.G925D

c.2774G>A