Varaico: Literature-Extracted Genetic Variants

Gene:SORT1
Variant:p.P176S

SORT1

309 papers

RefSeq Summary

This gene encodes a member of the VPS10-related sortilin family of proteins. The encoded preproprotein is proteolytically processed by furin to generate the mature receptor. This receptor plays a role...

Pfam Domains

Sortilin-Vps10aa 142–572UCSCSortilin, neurotensin receptor 3,
Sortilin_Caa 574–740UCSCSortilin, neurotensin receptor 3, C-terminal

Gene Aliases

HGNC Name

sortilin 1

HGNC Alias Symbols

Gp95; NT3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002959.7
p.P176S
c.526C>T
Surrounding Variants
1 paper
NM_002959.7
p.M172L
c.514A>T
7 papers
NM_002959.7
p.G171A
c.512G>C
1 paper
NM_002959.7
p.K181E
c.541A>G
1 paper
NM_002959.7
p.T168A
c.502A>G
1 paper
NM_002959.7
p.D156_I157delFs
c.468_469delTA
1 paper
NM_002959.7
p.K181_V182Splc
c.543+46T>C
1 paper
NM_002959.7
p.F154F
c.462T>C
1 paper
NM_002959.7
p.K181_V182Splc
c.543+52G>C
1 paper
NM_002959.7
p.D149A
c.446A>C
1 paper
NM_002959.7
p.E148D
c.444G>T
1 paper
NM_002959.7
p.E148D
c.444G>C
4 papers
NM_002959.7
p.E148V
c.443A>T
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