Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.L908P

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
4 papers
NM_001134363.3
p.L908P
c.2723T>C
Surrounding Variants
3 papers
NM_001134363.3
p.V909_V914del0
c.2727_2741del15
2 papers
NM_001134363.3
p.E907K
c.2719G>A
3 papers
NM_001134363.3
p.T910P
c.2728A>C
2 papers
NM_001134363.3
p.V911M
c.2731G>A
3 papers
NM_001134363.3
p.M905K
c.2714T>A
1 paper
NM_001134363.3
p.D912G
c.2735A>G
37 papers
NM_001134363.3
p.E913K
c.2737G>A
1 paper
NM_001134363.3
p.V914I
c.2740G>A
1 paper
NM_001134363.3
p.V914F
c.2740G>T
8 papers
NM_001134363.3
p.V914A
c.2741T>C
1 paper
NM_001134363.3
p.G915delFs
c.2743delG
1 paper
NM_001134363.3
p.G915fs
c.2743_2744fs
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