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.V389L

c.1165G>C

Surrounding Variants

1 paper

NM_003105.6

p.V389M

c.1165G>A

2 papers

NM_003105.6

p.V389L

c.1165G>T

6 papers

NM_003105.6

p.Y391C

c.1172A>G

1 paper

NM_003105.6

p.G395E

c.1184G>A

2 papers

NM_003105.6

p.F382insFs

c.1145_1146insA

1 paper

NM_003105.6

p.K381K

c.1143G>A

1 paper

NM_003105.6

p.G396A

c.1187G>C

1 paper

NM_003105.6

p.G398C

c.1192G>T

1 paper

NM_003105.6

p.G398D

c.1193G>A

2 papers

NM_003105.6

p.G379W

c.1135G>T

1 paper

NM_003105.6

p.A377T

c.1129G>A

1 paper

NM_003105.6

p.L402_R404del0

c.1206_1211del6