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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPATA16

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 153 variants

14 papers

chr3:173019486 C>T

NM_031955.6

p.R283Q

c.848G>A

NYD-SP12_N

Exome: 0.0% (AC=598, hom=0)Genome: 0.0% (AC=44, hom=0)59 overlapping SVs

7 papers

chr3:172977053 C>T

NM_031955.6

p.R283Q

c.848G>A

exact variant not in gnomAD57 overlapping SVs

6 papers

chr3:172913722 G>A

NM_031955.6

p.A509V

c.1526C>T

NYD-SP12_N

Exome: 2.2% (AC=31739, hom=426)Genome: 1.9% (AC=2857, hom=29)55 overlapping SVs

5 papers

chr3:173117335 T>C

NM_031955.6

p.M133V

c.397A>G

NYD-SP12_N

Exome: 28.7% (AC=420154, hom=63843)Genome: 38.5% (AC=58527, hom=13524)56 overlapping SVs

3 papers

chr3:173117500 C>T

NM_031955.6

p.E78K

c.232G>A

NYD-SP12_N

Exome: 12.8% (AC=187204, hom=13441)Genome: 12.5% (AC=18994, hom=1404)55 overlapping SVs

3 papers

chr3:173117326 G>A

NM_031955.6

p.R136C

c.406C>T

NYD-SP12_N

Exome: 0.0% (AC=40, hom=0)Genome: 0.0% (AC=3, hom=0)55 overlapping SVs

3 papers

chr3:173117292 C>T

NM_031955.6

p.G147E

c.440G>A

NYD-SP12_N

Exome: 11.9% (AC=174686, hom=11850)Genome: 10.2% (AC=15480, hom=1069)55 overlapping SVs

3 papers

chr3:173049032 G>A

NM_031955.6

p.S225S

c.675C>T

NYD-SP12_N

Exome: 14.9% (AC=218183, hom=16902)Genome: 17.4% (AC=26443, hom=2449)58 overlapping SVs

3 papers

chr3:172913671 A>G

NM_031955.6

p.M526T

c.1577T>C

NYD-SP12_N

Exome: 2.2% (AC=31605, hom=429)Genome: 1.9% (AC=2890, hom=29)55 overlapping SVs

2 papers

chr3:173048988 C>T

NM_031955.6

p.R240Q

c.719G>A

NYD-SP12_N

Exome: 0.0% (AC=20, hom=0)Genome: 0.0% (AC=3, hom=0)58 overlapping SVs

2 papers

chr3:172956685 A>T

NM_031955.6

p.M358K

c.1073T>A

NYD-SP12_N

exact variant not in gnomAD55 overlapping SVs

2 papers

chr3:172924308 GT>G

NM_031955.6

p.K412delFs

c.1235delT

NYD-SP12_N

exact variant not in gnomAD55 overlapping SVs

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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."