Varaico: Literature-Extracted Genetic Variants

Gene:SMDT1

SMDT1

27 papers

RefSeq Summary

This gene encodes a core regulatory component of a calcium channel in the mitochondrial inner membrane. [provided by RefSeq, Apr 2017].

Pfam Domains

DDDDaa 32–107UCSCPutative mitochondrial precursor protein

Gene Aliases

HGNC Name

single-pass membrane protein with aspartate rich tail 1

HGNC Previous Symbol

C22orf32

Papers
RefSeq ID
Protein change
DNA change
1–12 of 23 variants
2 papers
NM_033318.5
p.G66S
c.196G>A
2 papers
NM_033318.5
p.R69C
c.205C>T
2 papers
NM_033318.5
p.S85R
c.253A>C
2 papers
NM_033318.5
p.S85R
c.255C>A
2 papers
NM_033318.5
p.S85R
c.255C>G
1 paper
NM_033318.5
p.M1T
c.2T>C
1 paper
NM_033318.5
p.V10V
c.30A>C
1 paper
NM_033318.5
p.S32S
c.96C>A
1 paper
NM_033318.5
p.A34delFs
c.102delA
1 paper
NM_033318.5
p.S38T
c.112T>A
1 paper
NM_033318.5
p.S45_R46Fs
c.134_136delinsCCFs
1 paper
NM_033318.5
p.R46G
c.136A>G
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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."