Varaico: Literature-Extracted Genetic Variants

Gene:SPAG17
Variant:p.P1278H

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.P1278H
c.3833C>A
Surrounding Variants
1 paper
NM_206996.4
p.Q1260H
c.3780G>T
1 paper
NM_206996.4
p.Q1260H
c.3780G>C
1 paper
NM_206996.4
p.Y1296fs
c.3886_3887fs
2 papers
NM_206996.4
p.R1259H
c.3776G>A
1 paper
NM_206996.4
p.T1346M
c.4037C>T
1 paper
NM_206996.4
p.P1348S
c.4042C>T
6 papers
NM_206996.4
p.P1348L
c.4043C>T
1 paper
NM_206996.4
p.E1350D
c.4050G>T
1 paper
NM_206996.4
p.E1350D
c.4050G>C
1 paper
NM_206996.4
p.G1239E
c.3716G>A
2 papers
NM_206996.4
p.S1228F
c.3683C>T
1 paper
NM_206996.4
p.V1207A
c.3620T>C
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