Varaico: Literature-Extracted Genetic Variants

Gene:RSPH4A
Variant:p.W441R

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
3 papers
NM_001010892.3
p.W441R
c.1321T>A
Surrounding Variants
3 papers
NM_001010892.3
p.W441R
c.1321T>C
1 paper
NM_001010892.3
p.A450T
c.1348G>A
3 papers
NM_001010892.3
p.Q451*
c.1351C>T
1 paper
NM_001010892.3
p.Y429C
c.1286A>G
1 paper
NM_001010892.3
p.G425D
c.1274G>A
1 paper
NM_001010892.3
p.T424fs
c.1270_1271fs
2 papers
NM_001010892.3
p.T424delFs
c.1270delA
1 paper
NM_001010892.3
p.K459N
c.1377G>C
1 paper
NM_001010892.3
p.K459N
c.1377G>T
1 paper
NM_001010892.3
p.E421*
c.1261G>T
1 paper
NM_001010892.3
p.F462_P469del8
c.1384_1406del24
1 paper
NM_001010892.3
p.E420delFs
c.1259delA
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