Varaico: Literature-Extracted Genetic Variants

Gene:RSPH6A
Variant:p.E701del1

RSPH6A

67 papers

RefSeq Summary

The protein encoded by this gene is similar to a sea urchin radial spoke head protein. Radial spoke protein complexes form part of the axoneme of eukaryotic flagella and are located between the axonem...

Pfam Domains

Radial_spokeaa 202–687UCSCRadial spokehead-like protein

Gene Aliases

HGNC Name

radial spoke head 6 homolog A

HGNC Previous Symbol

RSHL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_030785.4
p.E701del1
c.2101_2102delCTC
Surrounding Variants
1 paper
NM_030785.4
p.E705ins5
c.2113_2114ins15
1 paper
NM_030785.4
p.E705_G706del2
c.2113_2117del6
1 paper
NM_030785.4
p.E709G
c.2126A>G
2 papers
NM_030785.4
p.E702K
c.2104G>A
1 paper
NM_030785.4
p.G706_E711ins2
c.2117_2131dup15
2 papers
NM_030785.4
p.E711del1
c.2131_2132delCTC
1 paper
NM_030785.4
p.E714*
c.2140G>T
5 papers
NM_030785.4
p.E709_E714ins2
c.2125_2142dup18
1 paper
NM_030785.4
p.E714_T715ins5
c.2142_2143ins15
4 papers
NM_030785.4
p.E714_T715ins6
c.2142_2143ins18
1 paper
NM_030785.4
p.T715_D716del2
c.2143_2147del6
1 paper
NM_030785.4
p.P659P
c.1977G>A
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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."