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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPA17

Variant:p.R126Q

SPA17

19 papers

RefSeq Summary

This gene encodes a protein present at the cell surface. The N-terminus has sequence similarity to human cAMP-dependent protein kinase A (PKA) type II alpha regulatory subunit (RIIa) while the C-termi...

Pfam Domains

RIIaaa 14–51UCSCRegulatory subunit of type II PKA R-subunit

IQaa 115–135UCSCIQ calmodulin-binding motif

Gene Aliases

HGNC Name

sperm autoantigenic protein 17

HGNC Alias Symbols

SP17; CT22

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr11:124694367 G>A

NM_017425.4

p.R126Q

c.377G>A

Exome: 0.0% (AC=46, hom=0)Genome: 0.0% (AC=9, hom=0)9 overlapping SVs

Surrounding Variants

1 paper

chr11:124694349 A>G

NM_017425.4

p.K120R

c.359A>G

Exome: 0.0% (AC=627, hom=4)Genome: 0.4% (AC=564, hom=4)9 overlapping SVs

1 paper

chr11:124694390 G>A

NM_017425.4

p.A134T

c.400G>A

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=6, hom=0)9 overlapping SVs

1 paper

chr11:124694394 A>T

NM_017425.4

p.K135M

c.404A>T

exact variant not in gnomAD9 overlapping SVs

1 paper

chr11:124694318 G>C

NM_017425.4

p.D110H

c.328G>C

exact variant not in gnomAD9 overlapping SVs

1 paper

chr11:124694434 G>C

NM_017425.4

p.E148D

c.444G>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr11:124691762 G>C

NM_017425.4

p.E98Q

c.292G>C

Exome: 0.0% (AC=53, hom=0)Genome: 0.0% (AC=2, hom=0)8 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."