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

23 papers

NM_003105.6

p.D2065V

c.6194A>T

Surrounding Variants

1 paper

NM_003105.6

p.D2065A

c.6194A>C

1 paper

NM_003105.6

p.M2068L

c.6202A>C

1 paper

NM_003105.6

p.R2057_G2058Splc

c.6172-3C>T

1 paper

NM_003105.6

p.G2075E

c.6224G>A

1 paper

NM_003105.6

p.G2075A

c.6224G>C

1 paper

NM_003105.6

p.D2079N

c.6235G>A

1 paper

NM_003105.6

p.F2081L

c.6241T>C

1 paper

NM_003105.6

p.F2081L

c.6243C>A

1 paper

NM_003105.6

p.F2081L

c.6243C>G

6 papers

NM_003105.6

p.K2083R

c.6248A>G

1 paper

NM_003105.6

p.G2090C

c.6268G>T

3 papers

NM_003105.6

p.G2090V

c.6269G>T