Varaico: Literature-Extracted Genetic Variants

Gene:SNX1
Variant:p.Q447R

SNX1

53 papers

RefSeq Summary

This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Th...

Pfam Domains

Sorting_nexinaa 10–90UCSCSorting nexin, N-terminal domain
PXaa 173–268UCSCPX domain
Vps5aa 284–517UCSCVps5 C terminal like

Gene Aliases

HGNC Name

sorting nexin 1

HGNC Alias Symbols

SNX1A; MGC8664; HsT17379

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003099.5
p.Q447R
c.1340A>G
Surrounding Variants
2 papers
NM_003099.5
p.E455K
c.1363G>A
1 paper
NM_003099.5
p.R436Q
c.1307G>A
2 papers
NM_003099.5
p.E432D
c.1296G>T
1 paper
NM_003099.5
p.K430fs
c.1288_1289fs
1 paper
NM_003099.5
p.K430E
c.1288A>G
1 paper
NM_003099.5
p.K429E
c.1285A>G
1 paper
NM_003099.5
p.R465K
c.1394G>A
4 papers
NM_003099.5
p.D466N
c.1396G>A
2 papers
NM_003099.5
p.F467I
c.1399T>A
1 paper
NM_003099.5
p.R475Q
c.1424G>A
2 papers
NM_003099.5
p.R480Q
c.1439G>A
1 paper
NM_003099.5
p.E482_K483Splc
c.1447-216C>T
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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."