Varaico: Literature-Extracted Genetic Variants

Gene:RSPH6A
Variant:p.Q248H

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.Q248H
c.744G>C
Surrounding Variants
1 paper
NM_030785.4
p.Q248H
c.744G>T
1 paper
NM_030785.4
p.V239delFs
c.715_716delAC
1 paper
NM_030785.4
p.D235_P236delFs
c.705_706delGG
1 paper
NM_030785.4
p.Q248_D262del15
c.742_785del45
1 paper
NM_030785.4
p.E273fs
c.817_818fs
1 paper
NM_030785.4
p.E273delFs
c.819delC
2 papers
NM_030785.4
p.A277A
c.831G>C
1 paper
NM_030785.4
p.V199M
c.595G>A
1 paper
NM_030785.4
p.N150S
c.449A>G
1 paper
NM_030785.4
p.G126C
c.376G>T
1 paper
NM_030785.4
p.L120_Q121del1
c.359_361delGCA
1 paper
NM_030785.4
p.M119I
c.357G>T
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