Varaico: Literature-Extracted Genetic Variants

Gene:RBM20

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
1–12 of 581 variants
58 papers
NM_001134363.3
p.R634Q
c.1901G>A
56 papers
NM_001134363.3
p.R636S
c.1906C>A
50 papers
NM_001134363.3
p.R634W
c.1900C>T
48 papers
NM_001134363.3
p.P638L
c.1913C>T
46 papers
NM_001134363.3
p.R636H
c.1907G>A
45 papers
NM_001134363.3
p.S635A
c.1903T>G
37 papers
NM_001134363.3
p.E913K
c.2737G>A
34 papers
NM_001134363.3
p.R636C
c.1906C>T
28 papers
NM_001134363.3
p.S637G
c.1909A>G
25 papers
NM_001134363.3
p.D888N
c.2662G>A
22 papers
NM_001134363.3
p.P633L
c.1898C>T
20 papers
NM_001134363.3
p.S455L
c.1364C>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."