Varaico: Literature-Extracted Genetic Variants

Gene:SORT1
Variant:p.I124V

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
8 papers
NM_002959.7
p.I124V
c.370A>G
Surrounding Variants
1 paper
NM_002959.7
p.V123V
c.369C>T
1 paper
NM_002959.7
p.V126A
c.377T>C
1 paper
NM_002959.7
p.L127F
c.381G>T
1 paper
NM_002959.7
p.L127F
c.381G>C
2 papers
NM_002959.7
p.T128S
c.382A>T
1 paper
NM_002959.7
p.L134L
c.402G>A
1 paper
NM_002959.7
p.G140V
c.419G>T
1 paper
NM_002959.7
p.Q141K
c.421C>A
1 paper
NM_002959.7
p.L144_Y145insFs
c.432_433insA
1 paper
NM_002959.7
p.S147Splc
c.440+17G>A
1 paper
NM_002959.7
p.S147Splc
c.440+65T>A
1 paper
NM_002959.7
p.S147Splc
c.440+177T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."