Varaico: Literature-Extracted Genetic Variants

Gene:SORT1
Variant:p.P4P

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
2 papers
NM_002959.7
p.P4P
c.12C>G
Surrounding Variants
1 paper
NM_002959.7
p.P4S
c.10C>T
1 paper
NM_002959.7
p.E2*
c.4G>T
1 paper
NM_002959.7
p.M1T
c.2T>C
2 papers
NM_002959.7
p.D9N
c.25G>A
1 paper
NM_002959.7
p.G10C
c.28G>T
1 paper
NM_002959.7
p.G10R
c.28G>C
1 paper
NM_002959.7
p.G10G
c.30C>T
3 papers
NM_002959.7
p.P15S
c.43C>T
1 paper
NM_002959.7
p.L23L
c.69C>G
2 papers
NM_002959.7
p.L23_L24del1
c.69_71delAGG
1 paper
NM_002959.7
p.L24del1
c.70_71delCAG
1 paper
NM_002959.7
p.Q25_L26insFs
c.75_76insAT
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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."