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

44 papers

NM_003105.6

p.A528T

c.1582G>A

Surrounding Variants

1 paper

NM_003105.6

p.W530*

c.1589G>A

1 paper

NM_003105.6

p.W530*

c.1590G>A

1 paper

NM_003105.6

p.R531L

c.1592G>T

1 paper

NM_003105.6

p.E532K

c.1594G>A

1 paper

NM_003105.6

p.E532_A533Splc

c.1596+16C>T

3 papers

NM_003105.6

p.S516N

c.1547G>A

1 paper

NM_003105.6

p.S516fs

c.1546_1547fs

1 paper

NM_003105.6

p.N513K

c.1539C>A

1 paper

NM_003105.6

p.N513K

c.1539C>G

31 papers

NM_003105.6

p.G511R

c.1531G>A

31 papers

NM_003105.6

p.G511R

c.1531G>C

3 papers

NM_003105.6

p.V510L

c.1528G>C