Varaico: Literature-Extracted Genetic Variants

Gene:SPATA16
Variant:p.K412delFs

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
2 papers
NM_031955.6
p.K412delFs
c.1235delT
Surrounding Variants
2 papers
NM_031955.6
p.G416S
c.1246G>A
1 paper
NM_031955.6
p.E410K
c.1228G>A
1 paper
NM_031955.6
p.K412_Q425del14
c.1234_1274del42
1 paper
NM_031955.6
p.R432*
c.1294C>T
1 paper
NM_031955.6
p.L405V
c.1213C>G
1 paper
NM_031955.6
p.R403K
c.1208G>A
1 paper
NM_031955.6
p.I400fs
c.1198_1199fs
1 paper
NM_031955.6
p.F396Y
c.1187T>A
1 paper
NM_031955.6
p.T385_G387delFs
c.1153_1159del7
1 paper
NM_031955.6
p.T385fs
c.1153_1154fs
1 paper
NM_031955.6
p.Q380_Q381delFs
c.1140_1143del4
1 paper
NM_031955.6
p.P378_P379del2
c.1132_1136del6
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