Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.S455L

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
20 papers
NM_001134363.3
p.S455L
c.1364C>T
Surrounding Variants
1 paper
NM_001134363.3
p.L453R
c.1358T>G
1 paper
NM_001134363.3
p.G458E
c.1373G>A
1 paper
NM_001134363.3
p.R450Q
c.1349G>A
2 papers
NM_001134363.3
p.A462T
c.1384G>A
3 papers
NM_001134363.3
p.N446Splc
c.1338-1G>T
1 paper
NM_001134363.3
p.A468V
c.1403C>T
1 paper
NM_001134363.3
p.A473T
c.1417G>A
1 paper
NM_001134363.3
p.D477Splc
c.1429+3G>T
1 paper
NM_001134363.3
p.D477Splc
c.1429+10G>T
1 paper
NM_001134363.3
p.D477G
c.1430A>G
1 paper
NM_001134363.3
p.S480*
c.1439C>A
1 paper
NM_001134363.3
p.S480*
c.1439C>G
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