Varaico: Literature-Extracted Genetic Variants

Gene:RSPH6A
Variant:p.H28_R30del0

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
1 paper
NM_030785.4
p.H28_R30del0
c.83_88del6
Surrounding Variants
1 paper
NM_030785.4
p.R30W
c.88C>T
1 paper
NM_030785.4
p.E42D
c.126G>C
1 paper
NM_030785.4
p.R43K
c.128G>A
1 paper
NM_030785.4
p.D49D
c.147C>T
1 paper
NM_030785.4
p.A50G
c.149C>G
1 paper
NM_030785.4
p.G2delFs
c.5delC
1 paper
NM_030785.4
p.Q73R
c.218A>G
1 paper
NM_030785.4
p.G83_P88del6
c.247_263del18
1 paper
NM_030785.4
p.S96insFs
c.288dupA
1 paper
NM_030785.4
p.E97fs
c.289_290fs
1 paper
NM_030785.4
p.Y103*
c.309C>G
1 paper
NM_030785.4
p.Y103*
c.309C>A
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