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

6 papers

NM_003105.6

p.H962fs

c.2884_2885fs

Surrounding Variants

1 paper

NM_003105.6

p.H962fs

c.2884_2885fs

1 paper

NM_003105.6

p.P961fs

c.2881_2882fs

4 papers

NM_003105.6

p.P961_H962delFs

c.2882_2885del4

1 paper

NM_003105.6

p.P961insFs

c.2882dupC

1 paper

NM_003105.6

p.I966T

c.2897T>C

4 papers

NM_003105.6

p.R953H

c.2858G>A

10 papers

NM_003105.6

p.R953C

c.2857C>T

19 papers

NM_003105.6

p.T947M

c.2840C>T

1 paper

NM_003105.6

p.R945Q

c.2834G>A

1 paper

NM_003105.6

p.E944Q

c.2830G>C

1 paper

NM_003105.6

p.C942G

c.2824T>G

1 paper

NM_003105.6

p.L940M

c.2818C>A