Varaico: Literature-Extracted Genetic Variants

Gene:SMPX
Variant:p.A29T

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
1 paper
NM_014332.3
p.A29T
c.85G>A
Surrounding Variants
1 paper
NM_014332.3
p.A29A
c.87A>T
6 papers
NM_014332.3
p.G30fs
c.88_89fs
5 papers
NM_014332.3
p.A29insFs
c.87dupA
4 papers
NM_014332.3
p.P27A
c.79C>G
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.P21Q
c.62C>A
11 papers
NM_014332.3
p.E37*
c.109G>T
2 papers
NM_014332.3
p.E37K
c.109G>A
5 papers
NM_014332.3
p.N19D
c.55A>G
1 paper
NM_014332.3
p.Q15_A16Splc
c.46-2A>G
1 paper
NM_014332.3
p.E43*
c.127G>T
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