Varaico: Literature-Extracted Genetic Variants

Gene:SNX27
Variant:p.V323M

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.V323M
c.967G>A
Surrounding Variants
2 papers
NM_001330723.2
p.S325C
c.973A>T
1 paper
NM_001330723.2
p.M310T
c.929T>C
1 paper
NM_001330723.2
p.R330C
c.988C>T
2 papers
NM_001330723.2
p.R330H
c.989G>A
1 paper
NM_001330723.2
p.E336*
c.1006G>T
1 paper
NM_001330723.2
p.G352R
c.1054G>C
1 paper
NM_001330723.2
p.T364I
c.1091C>T
1 paper
NM_001330723.2
p.I368S
c.1103T>G
2 papers
NM_001330723.2
p.L369I
c.1105C>A
1 paper
NM_001330723.2
p.H382Y
c.1144C>T
2 papers
NM_001330723.2
p.Q383*
c.1147C>T
1 paper
NM_001330723.2
p.V291D
c.872T>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."