Varaico: Literature-Extracted Genetic Variants

Gene:SORT1
Variant:p.W337*

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.W337*
c.1011G>A
Surrounding Variants
1 paper
NM_002959.7
p.W337*
c.1010G>A
1 paper
NM_002959.7
p.Q341*
c.1021C>T
1 paper
NM_002959.7
p.G334W
c.1000G>T
1 paper
NM_002959.7
p.D332V
c.995A>T
1 paper
NM_002959.7
p.P343H
c.1028C>A
1 paper
NM_002959.7
p.T331A
c.991A>G
1 paper
NM_002959.7
p.I327N
c.980T>A
1 paper
NM_002959.7
p.E348K
c.1042G>A
1 paper
NM_002959.7
p.Q349delFs
c.1045delG
1 paper
NM_002959.7
p.R325insFs
c.973dupA
1 paper
NM_002959.7
p.Y351H
c.1051T>C
1 paper
NM_002959.7
p.T323T
c.969A>C
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