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.M307V

c.919A>G

Surrounding Variants

2 papers

NM_003105.6

p.M307R

c.920T>G

1 paper

NM_003105.6

p.F308L

c.922T>C

1 paper

NM_003105.6

p.Y306D

c.916T>G

1 paper

NM_003105.6

p.T310I

c.929C>T

1 paper

NM_003105.6

p.R303G

c.907C>G

3 papers

NM_003105.6

p.R303W

c.907C>T

1 paper

NM_003105.6

p.Q301H

c.903G>T

1 paper

NM_003105.6

p.Q301R

c.902A>G

2 papers

NM_003105.6

p.V297G

c.890T>G

2 papers

NM_003105.6

p.V297M

c.889G>A

4 papers

NM_003105.6

p.E295K

c.883G>A

1 paper

NM_003105.6

p.I293F

c.877A>T