Varaico: Literature-Extracted Genetic Variants

Gene:SORT1
Variant:p.E85V

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.E85V
c.254A>T
Surrounding Variants
1 paper
NM_002959.7
p.E84D
c.252G>C
1 paper
NM_002959.7
p.V89L
c.265G>C
1 paper
NM_002959.7
p.V89I
c.265G>A
1 paper
NM_002959.7
p.G81V
c.242G>T
1 paper
NM_002959.7
p.D91A
c.272A>C
1 paper
NM_002959.7
p.S78R
c.234C>G
1 paper
NM_002959.7
p.S78R
c.234C>A
1 paper
NM_002959.7
p.S78R
c.232A>C
1 paper
NM_002959.7
p.V93I
c.277G>A
1 paper
NM_002959.7
p.K95Q
c.283A>C
1 paper
NM_002959.7
p.G73A
c.218G>C
1 paper
NM_002959.7
p.F69_R71del3
c.205_212del9
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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."