Varaico: Literature-Extracted Genetic Variants

Gene:SMPX
Variant:p.E44_G45Splc

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
Selected Variant
5 papers
NM_014332.3
p.E44_G45Splc
c.133-1G>A
Surrounding Variants
4 papers
NM_014332.3
p.G45fs
c.133_134fs
1 paper
NM_014332.3
p.E44_G45Splc
c.133-2A>G
1 paper
NM_014332.3
p.E44_G45Splc
c.133-2A>C
2 papers
NM_014332.3
p.G45V
c.134G>T
2 papers
NM_014332.3
p.G45fs
c.133_134fs
2 papers
NM_014332.3
p.P47fs
c.139_140fs
3 papers
NM_014332.3
p.P47delFs
c.140delG
1 paper
NM_014332.3
p.K54N
c.162G>T
1 paper
NM_014332.3
p.K54N
c.162G>C
1 paper
NM_014332.3
p.K55fs
c.163_164fs
1 paper
NM_014332.3
p.K54delFs
c.162delC
12 papers
NM_014332.3
p.G59*
c.175G>T
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