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.Y350_D353delFs

c.1050_1057del8

Surrounding Variants

1 paper

NM_003105.6

p.Y350C

c.1049A>G

1 paper

NM_003105.6

p.Y350*

c.1050C>A

1 paper

NM_003105.6

p.Y350*

c.1050C>G

2 papers

NM_003105.6

p.Y350fs

c.1048_1049fs

1 paper

NM_003105.6

p.I351I

c.1053C>T

2 papers

NM_003105.6

p.A352T

c.1054G>A

1 paper

NM_003105.6

p.E348fs

c.1042_1043fs

1 paper

NM_003105.6

p.S355A

c.1063T>G

1 paper

NM_003105.6

p.S355S

c.1065C>T

1 paper

NM_003105.6

p.E356K

c.1066G>A

2 papers

NM_003105.6

p.V361L

c.1081G>C

2 papers

NM_003105.6

p.V361L

c.1081G>T