Varaico: Literature-Extracted Genetic Variants

Gene:SPAG17
Variant:p.G97R

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.G97R
c.289G>C
Surrounding Variants
1 paper
NM_206996.4
p.K94delFs
c.282delT
1 paper
NM_206996.4
p.K94fs
c.280_281fs
1 paper
NM_206996.4
p.S88S
c.264A>G
1 paper
NM_206996.4
p.Q61L
c.182A>T
1 paper
NM_206996.4
p.Q61K
c.181C>A
2 papers
NM_206996.4
p.Q58H
c.174G>T
2 papers
NM_206996.4
p.Q58H
c.174G>C
1 paper
NM_206996.4
p.G41R
c.121G>C
1 paper
NM_206996.4
p.G41R
c.121G>A
1 paper
NM_206996.4
p.I36V
c.106A>G
1 paper
NM_206996.4
p.A34A
c.102C>T
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