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.G273S

c.817G>A

Surrounding Variants

38 papers

NM_003105.6

p.E270K

c.808G>A

7 papers

NM_003105.6

p.H269H

c.807T>C

1 paper

NM_003105.6

p.H269_E270delins

c.807_808delinsCA

1 paper

NM_003105.6

p.V277L

c.829G>C

4 papers

NM_003105.6

p.R268*

c.802C>T

1 paper

NM_003105.6

p.R279*

c.835C>T

1 paper

NM_003105.6

p.I264V

c.790A>G

1 paper

NM_003105.6

p.I264F

c.790A>T

1 paper

NM_003105.6

p.D282V

c.845A>T

1 paper

NM_003105.6

p.P261T

c.781C>A

1 paper

NM_003105.6

p.K260E

c.778A>G

1 paper

NM_003105.6

p.E288K

c.862G>A