Varaico: Literature-Extracted Genetic Variants

Gene:SMDT1
Variant:p.S85R

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
2 papers
NM_033318.5
p.S85R
c.253A>C
Surrounding Variants
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.L83H
c.248T>A
1 paper
NM_033318.5
p.I75F
c.223A>T
2 papers
NM_033318.5
p.R69C
c.205C>T
1 paper
NM_033318.5
p.E101_D102ins1
c.303_304insGAT
1 paper
NM_033318.5
p.D102del1
c.304_306delGAT
2 papers
NM_033318.5
p.G66S
c.196G>A
1 paper
NM_033318.5
p.P60L
c.179C>T
1 paper
NM_033318.5
p.P60A
c.178C>G
1 paper
NM_033318.5
p.A55T
c.163G>A
1 paper
NM_033318.5
p.R52R
c.156C>T
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