Varaico: Literature-Extracted Genetic Variants

Gene:RSPH4A
Variant:p.M1T

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.M1T
c.2T>C
Surrounding Variants
1 paper
NM_001010892.3
p.M1insFs
c.3dupG
1 paper
NM_001010892.3
p.M1_E2delFs
c.3_6del4
4 papers
NM_001010892.3
p.M1insFs
c.2dupT
1 paper
NM_001010892.3
p.M1Fs
c.1delinsGCGATGCAAGCGATGFs
1 paper
NM_001010892.3
p.M1delFs
c.2delT
1 paper
NM_001010892.3
p.M1_E2insFs
c.3_4insT
1 paper
NM_001010892.3
p.M1_E2insFs
c.3_4insTT
1 paper
NM_001010892.3
p.E2_T5del4
c.4_14del12
1 paper
NM_001010892.3
p.M1_E2delFs
c.2_5del4
2 papers
NM_001010892.3
p.E2_D3insT
c.4_8ins3
1 paper
NM_001010892.3
p.D3_S6del4
c.7_17del12
1 paper
NM_001010892.3
p.K11delFs
c.33delA
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