Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.S1087insFs

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.S1087insFs
c.3260_3261insC
Surrounding Variants
1 paper
NM_001134363.3
p.S1087fs
c.3259_3260fs
2 papers
NM_001134363.3
p.S1087_P1088Fs
c.3261_3262delinsGFs
1 paper
NM_001134363.3
p.P1088A
c.3262C>G
1 paper
NM_001134363.3
p.P1088P
c.3264C>G
1 paper
NM_001134363.3
p.P1089T
c.3265C>A
3 papers
NM_001134363.3
p.P1089A
c.3265C>G
2 papers
NM_001134363.3
p.P1089R
c.3266C>G
1 paper
NM_001134363.3
p.P1089P
c.3267C>T
3 papers
NM_001134363.3
p.E1091K
c.3271G>A
1 paper
NM_001134363.3
p.E1083D
c.3249G>C
1 paper
NM_001134363.3
p.E1083D
c.3249G>T
2 papers
NM_001134363.3
p.L1082R
c.3245T>G
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