Varaico: Literature-Extracted Genetic Variants

Gene:SPATA16
Variant:p.K174_W175delFs

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.K174_W175delFs
c.522_525del4
Surrounding Variants
1 paper
NM_031955.6
p.V178I
c.532G>A
1 paper
NM_031955.6
p.K174E
c.520A>G
1 paper
NM_031955.6
p.L180_K181insFs
c.540_541insT
1 paper
NM_031955.6
p.S184G
c.550A>G
1 paper
NM_031955.6
p.S184S
c.552C>T
1 paper
NM_031955.6
p.A195delFs
c.585delT
1 paper
NM_031955.6
p.G197R
c.589G>A
1 paper
NM_031955.6
p.G197E
c.590G>A
1 paper
NM_031955.6
p.C152R
c.454T>C
1 paper
NM_031955.6
p.T201_A202insFs
c.603_604insG
1 paper
NM_031955.6
p.E204fs
c.610_611fs
3 papers
NM_031955.6
p.G147E
c.440G>A
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