Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.T831_D832del2

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
1 paper
NM_001134363.3
p.T831_D832del2
c.2491_2495del6
Surrounding Variants
1 paper
NM_001134363.3
p.R830_T831insFs
c.2490_2491insT
1 paper
NM_001134363.3
p.R833G
c.2497A>G
1 paper
NM_001134363.3
p.E836G
c.2507A>G
1 paper
NM_001134363.3
p.G837V
c.2510G>T
1 paper
NM_001134363.3
p.A838G
c.2513C>G
3 papers
NM_001134363.3
p.A818S
c.2452G>T
1 paper
NM_001134363.3
p.G817D
c.2450G>A
1 paper
NM_001134363.3
p.P815S
c.2443C>T
1 paper
NM_001134363.3
p.A814_P815delins
c.2442_2443delinsTT
1 paper
NM_001134363.3
p.M846I
c.2538G>A
1 paper
NM_001134363.3
p.M846I
c.2538G>C
1 paper
NM_001134363.3
p.M846I
c.2538G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."