Varaico: Literature-Extracted Genetic Variants

Gene:RSPH4A
Variant:p.L592delFs

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
6 papers
NM_001010892.3
p.L592delFs
c.1774_1775delTT
Surrounding Variants
5 papers
NM_001010892.3
p.L592fs
c.1774_1775fs
6 papers
NM_001010892.3
p.L589P
c.1766T>C
1 paper
NM_001010892.3
p.P594L
c.1781C>T
1 paper
NM_001010892.3
p.E586delFs
c.1756delG
1 paper
NM_001010892.3
p.Q585*
c.1753C>T
1 paper
NM_001010892.3
p.D581Y
c.1741G>T
1 paper
NM_001010892.3
p.D578fs
c.1732_1733fs
1 paper
NM_001010892.3
p.E600Splc
c.1798+26C>A
1 paper
NM_001010892.3
p.E569delFs
c.1707delA
1 paper
NM_001010892.3
p.Q564delFs
c.1690delC
1 paper
NM_001010892.3
p.F560Y
c.1679T>A
4 papers
NM_001010892.3
p.R556H
c.1667G>A
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