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.P1846S

c.5536C>T

Surrounding Variants

1 paper

NM_003105.6

p.S1847R

c.5539A>C

1 paper

NM_003105.6

p.S1847R

c.5541C>A

1 paper

NM_003105.6

p.S1847R

c.5541C>G

1 paper

NM_003105.6

p.R1842H

c.5525G>A

1 paper

NM_003105.6

p.R1842C

c.5524C>T

1 paper

NM_003105.6

p.A1850D

c.5549C>A

1 paper

NM_003105.6

p.I1853M

c.5559C>G

1 paper

NM_003105.6

p.Q1855K

c.5563C>A

1 paper

NM_003105.6

p.E1834G

c.5501A>G

4 papers

NM_003105.6

p.W1862C

c.5586G>C

4 papers

NM_003105.6

p.W1862C

c.5586G>T

1 paper

NM_003105.6

p.G1864S

c.5590G>A