Varaico: Literature-Extracted Genetic Variants

Gene:SMPX
Variant:p.E37*

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
11 papers
NM_014332.3
p.E37*
c.109G>T
Surrounding Variants
2 papers
NM_014332.3
p.E37K
c.109G>A
6 papers
NM_014332.3
p.R34fs
c.100_101fs
11 papers
NM_014332.3
p.P33delFs
c.99delG
1 paper
NM_014332.3
p.E43*
c.127G>T
6 papers
NM_014332.3
p.G30fs
c.88_89fs
5 papers
NM_014332.3
p.A29insFs
c.87dupA
5 papers
NM_014332.3
p.E44fs
c.130_131fs
1 paper
NM_014332.3
p.A29A
c.87A>T
10 papers
NM_014332.3
p.E44delFs
c.130delC
2 papers
NM_014332.3
p.E44E
c.132G>A
1 paper
NM_014332.3
p.E44_G45Splc
c.132+1G>T
3 papers
NM_014332.3
p.E44_G45Splc
c.132+1G>A
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