Varaico: Literature-Extracted Genetic Variants

Gene:RSPH4A
Variant:p.K215N

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.K215N
c.645G>C
Surrounding Variants
1 paper
NM_001010892.3
p.K215N
c.645G>T
1 paper
NM_001010892.3
p.Y217S
c.650A>C
1 paper
NM_001010892.3
p.N213_A214insG
c.637_641ins3
1 paper
NM_001010892.3
p.Q212*
c.634C>T
1 paper
NM_001010892.3
p.T210delFs
c.630delC
1 paper
NM_001010892.3
p.S222N
c.665G>A
4 papers
NM_001010892.3
p.S223delFs
c.667delA
4 papers
NM_001010892.3
p.S223fs
c.667_668fs
2 papers
NM_001010892.3
p.L207F
c.619C>T
1 paper
NM_001010892.3
p.M206delFs
c.616delA
1 paper
NM_001010892.3
p.F227insFs
c.680dupT
1 paper
NM_001010892.3
p.P204T
c.610C>A
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."