Varaico: Literature-Extracted Genetic Variants

Gene:SPATA16
Variant:p.L212L

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.L212L
c.634C>T
Surrounding Variants
1 paper
NM_031955.6
p.S207R
c.621C>A
1 paper
NM_031955.6
p.S207R
c.619A>C
1 paper
NM_031955.6
p.D217V
c.650A>T
1 paper
NM_031955.6
p.C206delFs
c.616delA
1 paper
NM_031955.6
p.A218delFs
c.652delC
1 paper
NM_031955.6
p.P219T
c.655C>A
3 papers
NM_031955.6
p.S225S
c.675C>T
1 paper
NM_031955.6
p.S225R
c.675C>A
1 paper
NM_031955.6
p.V226M
c.676G>A
1 paper
NM_031955.6
p.A227insFs
c.680dupC
1 paper
NM_031955.6
p.I230M
c.690T>G
1 paper
NM_031955.6
p.T232A
c.694A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."