Varaico: Literature-Extracted Genetic Variants

Gene:SPAG17
Variant:p.E1006K

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.E1006K
c.3016G>A
Surrounding Variants
1 paper
NM_206996.4
p.S1007C
c.3020C>G
1 paper
NM_206996.4
p.K986N
c.2958A>T
1 paper
NM_206996.4
p.K986N
c.2958A>C
1 paper
NM_206996.4
p.A975T
c.2923G>A
1 paper
NM_206996.4
p.E949K
c.2845G>A
1 paper
NM_206996.4
p.L947_A948insG
c.2839_2843ins3
3 papers
NM_206996.4
p.R946L
c.2837G>T
1 paper
NM_206996.4
p.H1020H
c.3060C>T
1 paper
NM_206996.4
p.Y1037Y
c.3111C>T
1 paper
NM_206996.4
p.V1048G
c.3143T>G
1 paper
NM_206996.4
p.G1056Splc
c.3166+89C>T
1 paper
NM_206996.4
p.F1059F
c.3177T>C
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