Varaico: Literature-Extracted Genetic Variants

Gene:SNX12

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
2 papers
NM_013346.4
p.T9I
c.26C>T
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.A5P
c.13G>C
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
1 paper
NM_001256188.2
p.R157H
c.470G>A
1 paper
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."