Varaico: Literature-Extracted Genetic Variants

Gene:RSPH4A
Variant:p.K27N

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.K27N
c.81G>C
Surrounding Variants
1 paper
NM_001010892.3
p.K27N
c.81G>T
1 paper
NM_001010892.3
p.E25K
c.73G>A
2 papers
NM_001010892.3
p.W24*
c.72G>A
2 papers
NM_001010892.3
p.W24*
c.71G>A
1 paper
NM_001010892.3
p.R22_E25delFs
c.65_75del11
1 paper
NM_001010892.3
p.Y34*
c.102T>A
5 papers
NM_001010892.3
p.Y34*
c.102T>G
1 paper
NM_001010892.3
p.G18R
c.52G>A
1 paper
NM_001010892.3
p.E16G
c.47A>G
3 papers
NM_001010892.3
p.S39*
c.116C>A
1 paper
NM_001010892.3
p.Q14*
c.40C>T
1 paper
NM_001010892.3
p.A45V
c.134C>T
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