Varaico: Literature-Extracted Genetic Variants

Gene:RSPH4A
Variant:p.P195delFs

RSPH4A

132 papers

RefSeq Summary

This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. R...

Pfam Domains

Radial_spokeaa 214–687UCSCRadial spokehead-like protein

Gene Aliases

HGNC Name

radial spoke head component 4A

HGNC Previous Symbol

RSHL3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001010892.3
p.P195delFs
c.583delC
Surrounding Variants
2 papers
NM_001010892.3
p.P195R
c.584C>G
1 paper
NM_001010892.3
p.E201_V202insFs
c.603_604insG
1 paper
NM_001010892.3
p.P204_S205insFs
c.610_613dup4
1 paper
NM_001010892.3
p.P204T
c.610C>A
1 paper
NM_001010892.3
p.M206delFs
c.616delA
2 papers
NM_001010892.3
p.L207F
c.619C>T
1 paper
NM_001010892.3
p.T210delFs
c.630delC
1 paper
NM_001010892.3
p.Q212*
c.634C>T
1 paper
NM_001010892.3
p.N213_A214insG
c.637_641ins3
1 paper
NM_001010892.3
p.K174E
c.520A>G
1 paper
NM_001010892.3
p.K215N
c.645G>C
1 paper
NM_001010892.3
p.K215N
c.645G>T
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."