Varaico: Literature-Extracted Genetic Variants

Gene:SORT1
Variant:p.I468V

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.I468V
c.1402A>G
Surrounding Variants
1 paper
NM_002959.7
p.S467R
c.1401C>A
1 paper
NM_002959.7
p.Y466C
c.1397A>G
1 paper
NM_002959.7
p.I468_S469del0
c.1402_1407del6
1 paper
NM_002959.7
p.H461H
c.1383T>C
1 paper
NM_002959.7
p.P475P
c.1425A>G
1 paper
NM_002959.7
p.P478S
c.1432C>T
2 papers
NM_002959.7
p.V485I
c.1453G>A
1 paper
NM_002959.7
p.G492Splc
c.1475-4G>T
1 paper
NM_002959.7
p.M501I
c.1503G>A
1 paper
NM_002959.7
p.P503S
c.1507C>T
1 paper
NM_002959.7
p.G511R
c.1531G>C
1 paper
NM_002959.7
p.G511R
c.1531G>A
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