Varaico: Literature-Extracted Genetic Variants

Gene:SNX27
Variant:p.H172delFs

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
2 papers
NM_001330723.2
p.H172delFs
c.515_516delAT
Surrounding Variants
1 paper
NM_001330723.2
p.H172fs
c.514_515fs
2 papers
NM_001330723.2
p.H172fs
c.514_515fs
3 papers
NM_001330723.2
p.Y170*
c.510C>A
3 papers
NM_001330723.2
p.Y170*
c.510C>G
1 paper
NM_001330723.2
p.V167V
c.501C>A
1 paper
NM_001330723.2
p.V167V
c.501C>G
1 paper
NM_001330723.2
p.K179K
c.537G>A
1 paper
NM_001330723.2
p.V181V
c.543G>C
1 paper
NM_001330723.2
p.Y155C
c.464A>G
1 paper
NM_001330723.2
p.D141N
c.421G>A
1 paper
NM_001330723.2
p.A140_S153ins4
c.419_457dup39
1 paper
NM_001330723.2
p.I121I
c.363T>C
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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."