Varaico: Literature-Extracted Genetic Variants

Gene:SNX12
Variant:p.T9I

SNX12

13 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

PXaa 58–149UCSCPX domain

Gene Aliases

HGNC Name

sorting nexin 12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_013346.4
p.T9I
c.26C>T
Surrounding Variants
1 paper
NM_013346.4
p.A5P
c.13G>C
1 paper
NM_013346.4
p.D3H
c.7G>C
1 paper
NM_013346.4
p.D3N
c.7G>A
1 paper
NM_013346.4
p.P25T
c.73C>A
1 paper
NM_013346.4
p.R55W
c.163C>T
1 paper
NM_013346.4
p.R69W
c.205C>T
1 paper
NM_013346.4
p.R119fs
c.355_356fs
2 papers
NM_001256188.2
p.R157H
c.470G>A
NM_013346.4
p.R161H
c.482G>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."