Varaico: Literature-Extracted Genetic Variants

Gene:SMN1

SMN1

1,019 papers

RefSeq Summary

This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. ...

Pfam Domains

SMN_G2-BDaa 27–55UCSCSurvival Motor Neuron, Gemin2-binding domain
SMN_G2-BDaa 27–55UCSCSurvival Motor Neuron, Gemin2-binding domain
SMN_Tudoraa 90–146UCSCSurvival motor neuron protein (SMN), Tudor domain
SMN_Tudoraa 90–146UCSCSurvival motor neuron protein (SMN), Tudor domain
SMN_YG-boxaa 226–293UCSCSurvival Motor Neuron, YG-box
SMN_YG-boxaa 226–293UCSCSurvival Motor Neuron, YG-box

Gene Aliases

HGNC Name

survival of motor neuron 1, telomeric

HGNC Previous Symbols

SMA@; SMA

Papers
RefSeq ID
Protein change
DNA change
1–12 of 571 variants
126 papers
NM_000344.4
p.F280F
c.840C>T
112 papers
NM_000344.4
p.Y272C
c.815A>G
80 papers
NM_000344.4
p.E134K
c.400G>A
58 papers
NM_000344.4
p.T274I
c.821C>T
46 papers
NM_000344.4
p.A2G
c.5C>G
43 papers
NM_000344.4
p.G279V
c.836G>T
37 papers
NM_000344.4
p.A111G
c.332C>G
30 papers
NM_000344.4
p.S262I
c.785G>T
29 papers
NM_000344.4
p.T37T
c.111A>G
29 papers
NM_000344.4
p.W92S
c.275G>C
27 papers
NM_000344.4
p.G95R
c.283G>A
27 papers
NM_000344.4
p.G95R
c.283G>C
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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."