Varaico: Literature-Extracted Genetic Variants

Gene:SPATA16
Variant:p.M1insFs

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.M1insFs
c.3dupG
Surrounding Variants
1 paper
NM_031955.6
p.M1insFs
c.2dupT
1 paper
NM_031955.6
p.M1delFs
c.2delA
1 paper
NM_031955.6
p.M1insFs
c.2_3insC
1 paper
NM_031955.6
p.M1insFs
c.1dupA
1 paper
NM_031955.6
p.M1T
c.2T>C
1 paper
NM_031955.6
p.M1insFs
c.1_2insGT
1 paper
NM_031955.6
p.R15K
c.44G>A
1 paper
NM_031955.6
p.H18R
c.53A>G
1 paper
NM_031955.6
p.T27K
c.80C>A
1 paper
NM_031955.6
p.S28insFs
c.82_83insCA
1 paper
NM_031955.6
p.M31_L34insFs
c.93_100dup8
1 paper
NM_031955.6
p.L34fs
c.100_101fs
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