Varaico: Literature-Extracted Genetic Variants

Gene:SNX27
Variant:p.C432Y

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
3 papers
NM_001330723.2
p.C432Y
c.1295G>A
Surrounding Variants
1 paper
NM_001330723.2
p.C432R
c.1294T>C
1 paper
NM_001330723.2
p.I443I
c.1329C>T
1 paper
NM_001330723.2
p.T449T
c.1347G>A
1 paper
NM_001330723.2
p.E473K
c.1417G>A
1 paper
NM_001330723.2
p.M474L
c.1420A>T
1 paper
NM_001330723.2
p.R476*
c.1426C>T
1 paper
NM_001330723.2
p.R476Q
c.1427G>A
2 papers
NM_001330723.2
p.R476L
c.1427G>T
2 papers
NM_001330723.2
p.D480H
c.1438G>C
2 papers
NM_001330723.2
p.E481V
c.1442A>T
1 paper
NM_001330723.2
p.E482Q
c.1444G>C
1 paper
NM_001330723.2
p.R492Q
c.1475G>A
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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."