Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.L718P

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.L718P
c.2153T>C
Surrounding Variants
20 papers
NM_001134363.3
p.R716Q
c.2147G>A
1 paper
NM_001134363.3
p.E725fs
c.2173_2174fs
2 papers
NM_001134363.3
p.R711H
c.2132G>A
5 papers
NM_001134363.3
p.R711C
c.2131C>T
2 papers
NM_001134363.3
p.R726*
c.2176C>T
1 paper
NM_001134363.3
p.P727S
c.2179C>T
3 papers
NM_001134363.3
p.E728del1
c.2182_2183delGAA
2 papers
NM_001134363.3
p.P706T
c.2116C>A
1 paper
NM_001134363.3
p.H733_R734ins4
c.2197_2201ins12
10 papers
NM_001134363.3
p.R703S
c.2109G>C
9 papers
NM_001134363.3
p.R703S
c.2109G>T
3 papers
NM_001134363.3
p.R703K
c.2108G>A
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