Varaico: Literature-Extracted Genetic Variants

Gene:SNX27
Variant:p.V291D

SNX27

82 papers

RefSeq Summary

This gene encodes a member of the sorting nexin family, a diverse group of cytoplasmic and membrane-associated proteins involved in endocytosis of plasma membrane receptors and protein trafficking thr...

Pfam Domains

PDZaa 43–133UCSCPDZ domain
PXaa 183–265UCSCPX domain
RAaa 273–362UCSCRas association (RalGDS/AF-6) domain

Gene Aliases

HGNC Name

sorting nexin 27

HGNC Alias Symbols

MY014; KIAA0488; MGC20471

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001330723.2
p.V291D
c.872T>A
Surrounding Variants
1 paper
NM_001330723.2
p.T286M
c.857C>T
1 paper
NM_001330723.2
p.V275L
c.823G>C
1 paper
NM_001330723.2
p.V275L
c.823G>T
1 paper
NM_001330723.2
p.N268Y
c.802A>T
2 papers
NM_001330723.2
p.L262fs
c.784_785fs
2 papers
NM_001330723.2
p.F261insFs
c.782dupT
1 paper
NM_001330723.2
p.M258I
c.774G>A
1 paper
NM_001330723.2
p.M258I
c.774G>C
1 paper
NM_001330723.2
p.M258I
c.774G>T
2 papers
NM_001330723.2
p.M258V
c.772A>G
1 paper
NM_001330723.2
p.D256Y
c.766G>T
1 paper
NM_001330723.2
p.I249M
c.747A>G
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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."