Varaico: Literature-Extracted Genetic Variants

Gene:RSPH4A
Variant:p.E515K

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.E515K
c.1543G>A
Surrounding Variants
1 paper
NM_001010892.3
p.A516V
c.1547C>T
1 paper
NM_001010892.3
p.R520*
c.1558C>T
1 paper
NM_001010892.3
p.S522insFs
c.1564dupA
1 paper
NM_001010892.3
p.S522fs
c.1564_1565fs
1 paper
NM_001010892.3
p.F502insFs
c.1504_1505insG
1 paper
NM_001010892.3
p.V497insFs
c.1490dupT
2 papers
NM_001010892.3
p.T495N
c.1484C>A
1 paper
NM_001010892.3
p.V538I
c.1612G>A
11 papers
NM_001010892.3
p.R490*
c.1468C>T
1 paper
NM_001010892.3
p.S540F
c.1619C>T
1 paper
NM_001010892.3
p.R485Q
c.1454G>A
4 papers
NM_001010892.3
p.R485*
c.1453C>T
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