Varaico: Literature-Extracted Genetic Variants

Gene:SORT1
Variant:p.E447G

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
5 papers
NM_002959.7
p.E447G
c.1340A>G
Surrounding Variants
4 papers
NM_002959.7
p.E444Q
c.1330G>C
1 paper
NM_002959.7
p.H439Y
c.1315C>T
1 paper
NM_002959.7
p.W437G
c.1309T>G
1 paper
NM_002959.7
p.G434R
c.1300G>C
1 paper
NM_002959.7
p.G434R
c.1300G>A
1 paper
NM_002959.7
p.F431L
c.1291T>C
1 paper
NM_002959.7
p.E457_C458Splc
c.1371+38T>G
1 paper
NM_002959.7
p.S424F
c.1271C>T
1 paper
NM_002959.7
p.D422Splc
c.1264+1994C>G
1 paper
NM_002959.7
p.E457_C458Splc
c.1371+2681T>C
1 paper
NM_002959.7
p.E421K
c.1261G>A
2 papers
NM_002959.7
p.V418M
c.1252G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."