Varaico: Literature-Extracted Genetic Variants

Gene:SMDT1
Variant:p.S45_R46Fs

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
Selected Variant
1 paper
NM_033318.5
p.S45_R46Fs
c.134_136delinsCCFs
Surrounding Variants
1 paper
NM_033318.5
p.R46G
c.136A>G
1 paper
NM_033318.5
p.V48_I49delFs
c.142_145del4
1 paper
NM_033318.5
p.V48fs
c.142_143fs
1 paper
NM_033318.5
p.R52G
c.154C>G
1 paper
NM_033318.5
p.R52R
c.156C>T
1 paper
NM_033318.5
p.S38T
c.112T>A
1 paper
NM_033318.5
p.A55T
c.163G>A
1 paper
NM_033318.5
p.A34delFs
c.102delA
1 paper
NM_033318.5
p.S32S
c.96C>A
1 paper
NM_033318.5
p.P60A
c.178C>G
1 paper
NM_033318.5
p.P60L
c.179C>T
1 paper
NM_033318.5
p.V10V
c.30A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."