Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.P934A

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.P934A
c.2800C>G
Surrounding Variants
1 paper
NM_001134363.3
p.K940R
c.2819A>G
1 paper
NM_001134363.3
p.I926F
c.2776A>T
1 paper
NM_001134363.3
p.T945S
c.2833A>T
6 papers
NM_001134363.3
p.I921V
c.2761A>G
2 papers
NM_001134363.3
p.I921F
c.2761A>T
1 paper
NM_001134363.3
p.E917K
c.2749G>A
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.L953S
c.2858T>C
1 paper
NM_001134363.3
p.G915delFs
c.2743delG
8 papers
NM_001134363.3
p.V914A
c.2741T>C
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