Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.L953S

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.L953S
c.2858T>C
Surrounding Variants
1 paper
NM_001134363.3
p.T945S
c.2833A>T
1 paper
NM_001134363.3
p.P962L
c.2885C>T
5 papers
NM_001134363.3
p.K963E
c.2887A>G
1 paper
NM_001134363.3
p.G965R
c.2893G>A
1 paper
NM_001134363.3
p.G965R
c.2893G>C
1 paper
NM_001134363.3
p.K940R
c.2819A>G
2 papers
NM_001134363.3
p.V969I
c.2905G>A
2 papers
NM_001134363.3
p.P934A
c.2800C>G
1 paper
NM_001134363.3
p.A973delFs
c.2919delT
1 paper
NM_001134363.3
p.A974fs
c.2920_2921fs
1 paper
NM_001134363.3
p.I926F
c.2776A>T
6 papers
NM_001134363.3
p.I921V
c.2761A>G
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