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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPATA16

Variant:p.Q268Q

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

Selected Variant

1 paper

chr3:173019530 T>C

NM_031955.6

p.Q268Q

c.804A>G

NYD-SP12_N

Exome: 0.0% (AC=1, hom=0)Genome: n/a59 overlapping SVs

Surrounding Variants

1 paper

chr3:173019534 C>A

NM_031955.6

p.R267L

c.800G>T

NYD-SP12_N

Exome: 0.0% (AC=2, hom=0)Genome: n/a59 overlapping SVs

1 paper

chr3:173019535 G>A

NM_031955.6

p.R267C

c.799C>T

NYD-SP12_N

Exome: 0.0% (AC=60, hom=0)Genome: 0.0% (AC=3, hom=0)59 overlapping SVs

1 paper

chr3:173019547 G>A

NM_031955.6

p.R263W

c.787C>T

NYD-SP12_N

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=2, hom=0)59 overlapping SVs

1 paper

chr3:173019505 T>A

NM_031955.6

p.R277W

c.829A>T

NYD-SP12_N

exact variant not in gnomAD59 overlapping SVs

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

1 paper

chr3:173019485 C>T

NM_031955.6

p.R283Splc

c.848+1G>A

NYD-SP12_N

Exome: 0.0% (AC=1, hom=0)Genome: n/a59 overlapping SVs

1 paper

chr3:173019351 C>T

NM_031955.6

p.R283Splc

c.848+135G>A

Exome: 13.3% (AC=89430, hom=6329)Genome: 15.3% (AC=23278, hom=1956)59 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."