Varaico: Literature-Extracted Genetic Variants

Gene:SORT1
Variant:p.R411C

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.R411C
c.1231C>T
Surrounding Variants
2 papers
NM_002959.7
p.R411H
c.1232G>A
1 paper
NM_002959.7
p.L410fs
c.1228_1229fs
1 paper
NM_002959.7
p.L410delFs
c.1228delG
1 paper
NM_002959.7
p.V413I
c.1237G>A
3 papers
NM_002959.7
p.V407M
c.1219G>A
1 paper
NM_002959.7
p.I415V
c.1243A>G
2 papers
NM_002959.7
p.N406S
c.1217A>G
2 papers
NM_002959.7
p.F404Y
c.1211T>A
2 papers
NM_002959.7
p.V418M
c.1252G>A
1 paper
NM_002959.7
p.T402T
c.1206G>A
1 paper
NM_002959.7
p.T402M
c.1205C>T
1 paper
NM_002959.7
p.E421K
c.1261G>A
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