Varaico: Literature-Extracted Genetic Variants

Gene:SPAG17
Variant:p.E438D

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.E438D
c.1314G>C
Surrounding Variants
1 paper
NM_206996.4
p.E438D
c.1314G>T
1 paper
NM_206996.4
p.E438G
c.1313A>G
1 paper
NM_206996.4
p.E438K
c.1312G>A
1 paper
NM_206996.4
p.C449G
c.1345T>G
1 paper
NM_206996.4
p.E423K
c.1267G>A
1 paper
NM_206996.4
p.T417A
c.1249A>G
1 paper
NM_206996.4
p.K402N
c.1206G>T
1 paper
NM_206996.4
p.K402N
c.1206G>C
1 paper
NM_206996.4
p.P393L
c.1178C>T
1 paper
NM_206996.4
p.P388S
c.1162C>T
1 paper
NM_206996.4
p.M387I
c.1161G>A
1 paper
NM_206996.4
p.P382T
c.1144C>A
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