Varaico: Literature-Extracted Genetic Variants

Gene:SPMIP7
Variant:p.N333K

SPMIP7

44 papers

Pfam Domains

SPATA48aa 307–434UCSCSpermatogenesis-associated protein 48

Gene Aliases

HGNC Name

sperm microtubule inner protein 7

HGNC Previous Symbols

C7orf72; SPATA48

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001161834.3
p.N333K
c.999T>G
Surrounding Variants
1 paper
NM_001161834.3
p.N333K
c.999T>A
2 papers
NM_001161834.3
p.T332A
c.994A>G
1 paper
NM_001161834.3
p.D336G
c.1007A>G
1 paper
NM_001161834.3
p.A345T
c.1033G>A
1 paper
NM_001161834.3
p.Y357Y
c.1071T>C
4 papers
NM_001161834.3
p.T358I
c.1073C>T
1 paper
NM_001161834.3
p.T326I
c.977C>T
1 paper
NM_001161834.3
p.K320insFs
c.958_959insTG
4 papers
NM_001161834.3
p.F312V
c.934T>G
2 papers
NM_001161834.3
p.T268A
c.802A>G
1 paper
NM_001161834.3
p.K252T
c.755A>C
1 paper
NM_001161834.3
p.A244fs
c.730_731fs
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