Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.R703S

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
10 papers
NM_001134363.3
p.R703S
c.2109G>C
Surrounding Variants
9 papers
NM_001134363.3
p.R703S
c.2109G>T
3 papers
NM_001134363.3
p.R703K
c.2108G>A
1 paper
NM_001134363.3
p.R703G
c.2107A>G
2 papers
NM_001134363.3
p.P706T
c.2116C>A
1 paper
NM_001134363.3
p.D699_D702del4
c.2095_2105del12
5 papers
NM_001134363.3
p.G697R
c.2089G>A
4 papers
NM_001134363.3
p.G697R
c.2089G>C
5 papers
NM_001134363.3
p.R711C
c.2131C>T
2 papers
NM_001134363.3
p.R711H
c.2132G>A
20 papers
NM_001134363.3
p.R716Q
c.2147G>A
1 paper
NM_001134363.3
p.L718P
c.2153T>C
1 paper
NM_001134363.3
p.R688Q
c.2063G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."