Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.H1038_A1040del3

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.H1038_A1040del3
c.3112_3119del9
Surrounding Variants
8 papers
NM_001134363.3
p.P1039S
c.3115C>T
11 papers
NM_001134363.3
p.G1031*
c.3091G>T
4 papers
NM_001134363.3
p.E1026K
c.3076G>A
2 papers
NM_001134363.3
p.D1023Y
c.3067G>T
1 paper
NM_001134363.3
p.R1057W
c.3169C>T
4 papers
NM_001134363.3
p.R1057Q
c.3170G>A
2 papers
NM_001134363.3
p.S1018fs
c.3052_3053fs
5 papers
NM_001134363.3
p.S1018_L1019delFs
c.3053_3056del4
4 papers
NM_001134363.3
p.G1016A
c.3047G>C
1 paper
NM_001134363.3
p.P1059R
c.3176C>G
1 paper
NM_001134363.3
p.G1016S
c.3046G>A
1 paper
NM_001134363.3
p.E1012G
c.3035A>G
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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."