Varaico: Literature-Extracted Genetic Variants

Gene:SORT1
Variant:p.D211N

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.D211N
c.631G>A
Surrounding Variants
1 paper
NM_002959.7
p.V208A
c.623T>C
1 paper
NM_002959.7
p.N206H
c.616A>C
1 paper
NM_002959.7
p.K205N
c.615G>T
1 paper
NM_002959.7
p.K205N
c.615G>C
1 paper
NM_002959.7
p.P216H
c.647C>A
1 paper
NM_002959.7
p.T218N
c.653C>A
1 paper
NM_002959.7
p.L217_T218delFs
c.651_652delTG
1 paper
NM_002959.7
p.Q219E
c.655C>G
1 paper
NM_002959.7
p.R199R
c.597A>G
1 paper
NM_002959.7
p.F198delFs
c.594delA
1 paper
NM_002959.7
p.F198fs
c.592_593fs
1 paper
NM_002959.7
p.F198L
c.594T>G
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