Varaico: Literature-Extracted Genetic Variants

Gene:SORT1
Variant:p.K278Splc

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.K278Splc
c.832+1G>A
Surrounding Variants
1 paper
NM_002959.7
p.K278Splc
c.832+5G>A
1 paper
NM_002959.7
p.G275S
c.823G>A
1 paper
NM_002959.7
p.T271_Y272delFs
c.813_816del4
1 paper
NM_002959.7
p.T266fs
c.796_797fs
1 paper
NM_002959.7
p.N265H
c.793A>C
1 paper
NM_002959.7
p.K278Splc
c.833-1G>C
1 paper
NM_002959.7
p.K297*
c.889A>T
10 papers
NM_002959.7
p.K302E
c.904A>G
1 paper
NM_002959.7
p.G307C
c.919G>T
2 papers
NM_002959.7
p.G307R
c.919G>C
1 paper
NM_002959.7
p.G310A
c.929G>C
2 papers
NM_002959.7
p.G310E
c.929G>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."