Varaico: Literature-Extracted Genetic Variants

Gene:SPAG17
Variant:p.Q730*

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_206996.4
p.Q730*
c.2188C>T
Surrounding Variants
1 paper
NM_206996.4
p.Q730H
c.2190G>T
1 paper
NM_206996.4
p.Q730H
c.2190G>C
1 paper
NM_206996.4
p.K728*
c.2182A>T
1 paper
NM_206996.4
p.Q723L
c.2168A>T
1 paper
NM_206996.4
p.L721*
c.2162T>G
1 paper
NM_206996.4
p.L721*
c.2162T>A
1 paper
NM_206996.4
p.N717D
c.2149A>G
1 paper
NM_206996.4
p.D716N
c.2146G>A
1 paper
NM_206996.4
p.P715A
c.2143C>G
1 paper
NM_206996.4
p.K711R
c.2132A>G
2 papers
NM_206996.4
p.L707delFs
c.2120delA
1 paper
NM_206996.4
p.L707*
c.2120T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."