Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.I921F

RBM20

475 papers

RefSeq Summary

This gene encodes a protein that binds RNA and regulates splicing. Mutations in this gene have been associated with familial dilated cardiomyopathy. [provided by RefSeq, Apr 2014].

Gene Aliases

HGNC Name

RNA binding motif protein 20

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001134363.3
p.I921F
c.2761A>T
Surrounding Variants
6 papers
NM_001134363.3
p.I921V
c.2761A>G
1 paper
NM_001134363.3
p.E917K
c.2749G>A
1 paper
NM_001134363.3
p.I926F
c.2776A>T
3 papers
NM_001134363.3
p.E916K
c.2746G>A
2 papers
NM_001134363.3
p.E916del1
c.2746_2748delGAA
1 paper
NM_001134363.3
p.G915fs
c.2743_2744fs
1 paper
NM_001134363.3
p.G915delFs
c.2743delG
8 papers
NM_001134363.3
p.V914A
c.2741T>C
1 paper
NM_001134363.3
p.V914I
c.2740G>A
1 paper
NM_001134363.3
p.V914F
c.2740G>T
37 papers
NM_001134363.3
p.E913K
c.2737G>A
1 paper
NM_001134363.3
p.D912G
c.2735A>G
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