Varaico: Literature-Extracted Genetic Variants

Gene:SPAG17
Variant:p.E158V

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
10 papers
NM_206996.4
p.E158V
c.473A>T
Surrounding Variants
1 paper
NM_206996.4
p.I151V
c.451A>G
1 paper
NM_206996.4
p.V150A
c.449T>C
1 paper
NM_206996.4
p.A172S
c.514G>T
1 paper
NM_206996.4
p.A178V
c.533C>T
1 paper
NM_206996.4
p.K179fs
c.535_536fs
1 paper
NM_206996.4
p.N189N
c.567T>C
1 paper
NM_206996.4
p.K194R
c.581A>G
1 paper
NM_206996.4
p.G202R
c.604G>C
1 paper
NM_206996.4
p.G202R
c.604G>A
1 paper
NM_206996.4
p.D205N
c.613G>A
1 paper
NM_206996.4
p.D205A
c.614A>C
1 paper
NM_206996.4
p.N208S
c.623A>G
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