Varaico: Literature-Extracted Genetic Variants

Gene:SMNDC1

SMNDC1

14 papers

RefSeq Summary

This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this ...

Pfam Domains

SMN_Tudoraa 71–125UCSCSurvival motor neuron protein (SMN), Tudor domain

Gene Aliases

HGNC Name

survival motor neuron domain containing 1

HGNC Alias Symbols

SPF30; SMNR; TDRD16C

Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
1 paper
NM_005871.4
p.K37K
c.111A>G
1 paper
NM_005871.4
p.S55S
c.165T>G
1 paper
NM_005871.4
p.T70A
c.208A>G
1 paper
NM_005871.4
p.F108Y
c.323T>A
1 paper
NM_005871.4
p.Y152*
c.456T>G
1 paper
NM_005871.4
p.Y152*
c.456T>A
1 paper
NM_005871.4
p.K154R
c.461A>G
1 paper
NM_005871.4
p.S187C
c.560C>G
1 paper
NM_005871.4
p.K190R
c.569A>G
1 paper
NM_005871.4
p.K191insFs
c.573dupA
1 paper
NM_005871.4
p.G192fs
c.574_575fs
1 paper
NM_005871.4
p.S201A
c.601T>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."