Varaico: Literature-Extracted Genetic Variants

Gene:SPAG17
Variant:p.L2036Q

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
3 papers
NM_206996.4
p.L2036Q
c.6107T>A
Surrounding Variants
2 papers
NM_206996.4
p.Q2043E
c.6127C>G
1 paper
NM_206996.4
p.K2028I
c.6083A>T
1 paper
NM_206996.4
p.L2016S
c.6047T>C
1 paper
NM_206996.4
p.V2009M
c.6025G>A
1 paper
NM_206996.4
p.A2003G
c.6008C>G
1 paper
NM_206996.4
p.K2055delFs
c.6165delT
1 paper
NM_206996.4
p.T2093I
c.6278C>T
1 paper
NM_206996.4
p.P2115S
c.6343C>T
1 paper
NM_206996.4
p.A2132G
c.6395C>G
1 paper
NM_206996.4
p.A2144V
c.6431C>T
4 papers
NM_206996.4
p.H2160Q
c.6480C>G
4 papers
NM_206996.4
p.H2160Q
c.6480C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."