Varaico: Literature-Extracted Genetic Variants

Gene:RSPH4A
Variant:p.K412delFs

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.K412delFs
c.1235delA
Surrounding Variants
1 paper
NM_001010892.3
p.E420delFs
c.1259delA
2 papers
NM_001010892.3
p.E421_S422delFs
c.1262_1265del4
2 papers
NM_001010892.3
p.E402V
c.1205A>T
1 paper
NM_001010892.3
p.E421*
c.1261G>T
1 paper
NM_001010892.3
p.E402_E403del2
c.1204_1208del6
2 papers
NM_001010892.3
p.T424delFs
c.1270delA
1 paper
NM_001010892.3
p.T424fs
c.1270_1271fs
1 paper
NM_001010892.3
p.G425D
c.1274G>A
3 papers
NM_001010892.3
p.E395G
c.1184A>G
1 paper
NM_001010892.3
p.Y429C
c.1286A>G
1 paper
NM_001010892.3
p.G394R
c.1180G>A
3 papers
NM_001010892.3
p.W441R
c.1321T>A
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