Varaico: Literature-Extracted Genetic Variants

Gene:SMPX
Variant:p.N10insFs

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.N10insFs
c.29_30insA
Surrounding Variants
1 paper
NM_014332.3
p.N10I
c.29A>T
4 papers
NM_014332.3
p.N10fs
c.28_29fs
1 paper
NM_014332.3
p.R12_A13insFs
c.36_37insG
3 papers
NM_014332.3
p.R12delFs
c.35delC
2 papers
NM_014332.3
p.A13V
c.38C>T
2 papers
NM_014332.3
p.P7delFs
c.20delG
1 paper
NM_014332.3
p.P7S
c.19C>T
2 papers
NM_014332.3
p.P7T
c.19C>A
2 papers
NM_014332.3
p.P7fs
c.19_20fs
1 paper
NM_014332.3
p.Q15_A16Splc
c.45+1G>C
1 paper
NM_014332.3
p.Q15_A16Splc
c.45+1G>A
1 paper
NM_014332.3
p.S4*
c.11C>A
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