Varaico: Literature-Extracted Genetic Variants

Gene:SPAG17
Variant:p.S842Y

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.S842Y
c.2525C>A
Surrounding Variants
1 paper
NM_206996.4
p.R830_H832delFs
c.2490_2496del7
1 paper
NM_206996.4
p.R830C
c.2488C>T
1 paper
NM_206996.4
p.R828K
c.2483G>A
1 paper
NM_206996.4
p.N824fs
c.2470_2471fs
1 paper
NM_206996.4
p.H812H
c.2436C>T
3 papers
NM_206996.4
p.C806F
c.2417G>T
1 paper
NM_206996.4
p.R777C
c.2329C>T
1 paper
NM_206996.4
p.K760fs
c.2278_2279fs
1 paper
NM_206996.4
p.K760delFs
c.2278_2279delTT
1 paper
NM_206996.4
p.A748T
c.2242G>A
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