Varaico: Literature-Extracted Genetic Variants

Gene:SPAG17
Variant:p.T1429_V1430Splc

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.T1429_V1430Splc
c.4288-1G>T
Surrounding Variants
1 paper
NM_206996.4
p.T1429_V1430Splc
c.4288-2A>T
1 paper
NM_206996.4
p.D1445delFs
c.4334delT
1 paper
NM_206996.4
p.T1447S
c.4339A>T
1 paper
NM_206996.4
p.T1447S
c.4340C>G
8 papers
NM_206996.4
p.R1448Q
c.4343G>A
1 paper
NM_206996.4
p.D1451V
c.4352A>T
1 paper
NM_206996.4
p.A1422T
c.4264G>A
1 paper
NM_206996.4
p.S1419Y
c.4256C>A
1 paper
NM_206996.4
p.P1416fs
c.4246_4247fs
1 paper
NM_206996.4
p.P1416delFs
c.4247delG
1 paper
NM_206996.4
p.D1413Y
c.4237G>T
1 paper
NM_206996.4
p.R1410I
c.4229G>T
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