Varaico: Literature-Extracted Genetic Variants

Gene:SORT1
Variant:p.G59insFs

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.G59insFs
c.175_176ins14
Surrounding Variants
1 paper
NM_002959.7
p.R61R
c.181C>A
1 paper
NM_002959.7
p.G66R
c.196G>A
1 paper
NM_002959.7
p.R49delins
c.146delinsCCGCTGCGCCGCTGCCGCG
1 paper
NM_002959.7
p.A68A
c.204G>A
1 paper
NM_002959.7
p.R49G
c.145C>G
1 paper
NM_002959.7
p.P70P
c.210C>G
1 paper
NM_002959.7
p.L47V
c.139C>G
1 paper
NM_002959.7
p.F69_R71del3
c.205_212del9
1 paper
NM_002959.7
p.G73A
c.218G>C
1 paper
NM_002959.7
p.P41S
c.121C>T
1 paper
NM_002959.7
p.S78R
c.232A>C
1 paper
NM_002959.7
p.S78R
c.234C>G
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