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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPAG17

Variant:p.R144W

SPAG17

212 papers

RefSeq Summary

This gene encodes a central pair protein present in the axonemes of cells with a '9 + 2' organization of microtubules. The encoded protein is required for the proper function of the axoneme. Mutations...

Pfam Domains

PapD-likeaa 2075–2180UCSCFlagellar-associated PapD-like

Gene Aliases

HGNC Name

sperm associated antigen 17

HGNC Alias Symbols

FLJ34497; PF6; RP4-776P7.2; CT143

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr1:118115327 G>A

NM_206996.4

p.R144W

c.430C>T

Exome: 0.2% (AC=2913, hom=26)Genome: 0.3% (AC=529, hom=5)242 overlapping SVs

Surrounding Variants

6 papers

chr1:118115329 C>T

NM_206996.4

p.R143Q

c.428G>A

Exome: 6.2% (AC=90855, hom=3864)Genome: 5.2% (AC=7973, hom=377)242 overlapping SVs

1 paper

chr1:118115324 C>T

NM_206996.4

p.E145K

c.433G>A

exact variant not in gnomAD242 overlapping SVs

1 paper

chr1:118115350 A>T

NM_206996.4

p.I136N

c.407T>A

exact variant not in gnomAD242 overlapping SVs

1 paper

chr1:118115352 C>A

NM_206996.4

p.Q135H

c.405G>T

exact variant not in gnomAD242 overlapping SVs

1 paper

chr1:118115363 G>A

NM_206996.4

p.Q132*

c.394C>T

exact variant not in gnomAD242 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."