Varaico: Literature-Extracted Genetic Variants

Gene:SORT1
Variant:p.L26L

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.L26L
c.76C>T
Surrounding Variants
2 papers
NM_002959.7
p.L26P
c.77T>C
1 paper
NM_002959.7
p.Q25_L26insFs
c.75_76insAT
1 paper
NM_002959.7
p.L24del1
c.70_71delCAG
2 papers
NM_002959.7
p.L23_L24del1
c.69_71delAGG
1 paper
NM_002959.7
p.L23L
c.69C>G
1 paper
NM_002959.7
p.S30W
c.89C>G
3 papers
NM_002959.7
p.D35Y
c.103G>T
3 papers
NM_002959.7
p.P15S
c.43C>T
1 paper
NM_002959.7
p.P41S
c.121C>T
1 paper
NM_002959.7
p.G10G
c.30C>T
1 paper
NM_002959.7
p.G10C
c.28G>T
1 paper
NM_002959.7
p.G10R
c.28G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."