Varaico: Literature-Extracted Genetic Variants

Gene:SPMIP6

SPMIP6

12 papers

RefSeq Summary

This gene encodes a nuclear- or perinuclear-localized protein with no predicted domains or similarity to other known proteins. Expression of this gene is induced during the differentiation of bronchia...

Pfam Domains

SMRP1aa 1–262UCSCSpermatid-specific manchette-related protein 1

Gene Aliases

HGNC Name

sperm microtubule inner protein 6

HGNC Previous Symbol

C9orf24

Papers
RefSeq ID
Protein change
DNA change
2 papers
NM_032596.4
p.R129W
c.385C>T
1 paper
NM_032596.4
p.I12M
c.36C>G
1 paper
NM_032596.4
p.S13N
c.38G>A
1 paper
NM_032596.4
p.E58K
c.172G>A
1 paper
NM_032596.4
p.T72T
c.216T>A
1 paper
NM_032596.4
p.P81L
c.242C>T
1 paper
NM_032596.4
p.C120*
c.360C>A
1 paper
NM_032596.4
p.K132_E133Splc
c.397-149C>G
1 paper
NM_032596.4
p.A218E
c.653C>A
1 paper
NM_032596.4
p.C220Y
c.659G>A
1 paper
NM_032596.4
p.D222fs
c.664_665fs
1 paper
NM_032596.4
p.T234_M235Splc
c.703-174G>T
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