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

15 papers

NM_003105.6

p.Y1816C

c.5447A>G

Surrounding Variants

2 papers

NM_003105.6

p.Y1816*

c.5448T>A

3 papers

NM_003105.6

p.Y1816Y

c.5448T>C

2 papers

NM_003105.6

p.Y1816*

c.5448T>G

1 paper

NM_003105.6

p.S1815S

c.5445C>G

13 papers

NM_003105.6

p.H1813Q

c.5439T>A

12 papers

NM_003105.6

p.H1813Q

c.5439T>G

2 papers

NM_003105.6

p.H1813R

c.5438A>G

1 paper

NM_003105.6

p.A1812V

c.5435C>T

5 papers

NM_003105.6

p.W1821*

c.5462G>A

6 papers

NM_003105.6

p.W1821*

c.5463G>A

8 papers

NM_003105.6

p.N1809S

c.5426A>G

1 paper

NM_003105.6

p.D1828fs

c.5482_5483fs