Varaico: Literature-Extracted Genetic Variants

Gene:SORT1
Variant:p.I537V

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.I537V
c.1609A>G
Surrounding Variants
1 paper
NM_002959.7
p.I544V
c.1630A>G
1 paper
NM_002959.7
p.I544_N545ins5
c.1630_1634ins15
1 paper
NM_002959.7
p.Y525_T526del2
c.1573_1577del6
1 paper
NM_002959.7
p.P522R
c.1565C>G
1 paper
NM_002959.7
p.K548Splc
c.1643+40G>A
1 paper
NM_002959.7
p.K548Splc
c.1643+42G>A
1 paper
NM_002959.7
p.G511R
c.1531G>C
1 paper
NM_002959.7
p.G511R
c.1531G>A
1 paper
NM_002959.7
p.P503S
c.1507C>T
1 paper
NM_002959.7
p.M501I
c.1503G>A
1 paper
NM_002959.7
p.G492Splc
c.1475-4G>T
2 papers
NM_002959.7
p.V485I
c.1453G>A
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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."