Varaico: Literature-Extracted Genetic Variants

Gene:SMPX
Variant:p.I73fs

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
6 papers
NM_014332.3
p.I73fs
c.217_218fs
Surrounding Variants
6 papers
NM_014332.3
p.I73insFs
c.217dupA
12 papers
NM_014332.3
p.E72*
c.214G>T
1 paper
NM_014332.3
p.S71L
c.212C>T
1 paper
NM_014332.3
p.S71T
c.211T>A
2 papers
NM_014332.3
p.K77N
c.231A>T
2 papers
NM_014332.3
p.K77N
c.231A>C
4 papers
NM_014332.3
p.S78N
c.233G>A
1 paper
NM_014332.3
p.P66L
c.197C>T
1 paper
NM_014332.3
p.L80L
c.238C>T
1 paper
NM_014332.3
p.L80V
c.238C>G
1 paper
NM_014332.3
p.L80I
c.238C>A
1 paper
NM_014332.3
p.L80P
c.239T>C
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