Varaico: Literature-Extracted Genetic Variants

Gene:SPATA16
Variant:p.I335_R336del2

SPATA16

105 papers

RefSeq Summary

This gene encodes a testis-specific protein that belongs to the tetratricopeptide repeat-like superfamily. The encoded protein localizes to the Golgi apparatus and may play a role in spermatogenesis. ...

Pfam Domains

NYD-SP12_Naa 5–567UCSCSpermatogenesis-associated, N-terminal

Gene Aliases

HGNC Name

spermatogenesis associated 16

HGNC Alias Symbol

NYD-SP12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_031955.6
p.I335_R336del2
c.1003_1007del6
Surrounding Variants
1 paper
NM_031955.6
p.I335I
c.1005A>C
1 paper
NM_031955.6
p.P330S
c.988C>T
1 paper
NM_031955.6
p.F347S
c.1040T>C
1 paper
NM_031955.6
p.V326fs
c.976_977fs
1 paper
NM_031955.6
p.E322K
c.964G>A
1 paper
NM_031955.6
p.A321A
c.963T>G
1 paper
NM_031955.6
p.T319N
c.956C>A
1 paper
NM_031955.6
p.A355V
c.1064C>T
1 paper
NM_031955.6
p.I318N
c.953T>A
1 paper
NM_031955.6
p.Y357insFs
c.1069_1070insAC
1 paper
NM_031955.6
p.A317insFs
c.949_950ins5
1 paper
NM_031955.6
p.E316*
c.946G>T
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