Varaico: Literature-Extracted Genetic Variants

Gene:SPAG17
Variant:p.S1228F

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
2 papers
NM_206996.4
p.S1228F
c.3683C>T
Surrounding Variants
1 paper
NM_206996.4
p.G1239E
c.3716G>A
1 paper
NM_206996.4
p.V1207A
c.3620T>C
2 papers
NM_206996.4
p.R1259H
c.3776G>A
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.P1278H
c.3833C>A
1 paper
NM_206996.4
p.Y1296fs
c.3886_3887fs
1 paper
NM_206996.4
p.K1203T
c.3608A>C
1 paper
NM_206996.4
p.S1190F
c.3569C>T
1 paper
NM_206996.4
p.K1176T
c.3527A>C
1 paper
NM_206996.4
p.V1172I
c.3514G>A
1 paper
NM_206996.4
p.E1145Splc
c.3434-48C>T
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