Varaico: Literature-Extracted Genetic Variants

Gene:SMPX

SMPX

56 papers

RefSeq Summary

This gene encodes a small protein that has no known functional domains. Mutations in this gene are a cause of X-linked deafness-4, and the encoded protein may play a role in the maintenance of inner e...

Pfam Domains

Chiselaa 3–87UCSCStretch-responsive small skeletal muscle X protein, Chisel

Gene Aliases

HGNC Name

small muscle protein X-linked

HGNC Previous Symbol

DFN6

Papers
RefSeq ID
Protein change
DNA change
1–12 of 65 variants
12 papers
NM_014332.3
p.G59*
c.175G>T
12 papers
NM_014332.3
p.E72*
c.214G>T
11 papers
NM_014332.3
p.P33delFs
c.99delG
11 papers
NM_014332.3
p.E37*
c.109G>T
10 papers
NM_014332.3
p.E44delFs
c.130delC
6 papers
NM_014332.3
p.G30fs
c.88_89fs
6 papers
NM_014332.3
p.R34fs
c.100_101fs
6 papers
NM_014332.3
p.I73fs
c.217_218fs
6 papers
NM_014332.3
p.I73insFs
c.217dupA
5 papers
NM_014332.3
p.N10insFs
c.29_30insA
5 papers
NM_014332.3
p.N19D
c.55A>G
5 papers
NM_014332.3
p.A29insFs
c.87dupA
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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."