Varaico: Literature-Extracted Genetic Variants

Gene:RSPH4A

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
1–12 of 194 variants
11 papers
NM_001010892.3
p.R490*
c.1468C>T
10 papers
NM_001010892.3
p.Q154*
c.460C>T
10 papers
NM_001010892.3
p.A369P
c.1105G>C
10 papers
NM_001010892.3
p.G464E
c.1391G>A
8 papers
NM_001010892.3
p.Q109*
c.325C>T
8 papers
NM_001010892.3
p.Q144*
c.430C>T
6 papers
NM_001010892.3
p.M1T
c.2T>C
6 papers
NM_001010892.3
p.V368G
c.1103T>G
6 papers
NM_001010892.3
p.L589P
c.1766T>C
6 papers
NM_001010892.3
p.L592delFs
c.1774_1775delTT
5 papers
NM_001010892.3
p.Y34*
c.102T>G
5 papers
NM_001010892.3
p.R465*
c.1393C>T
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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."