Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.G672S

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
3 papers
NM_001134363.3
p.G672S
c.2014G>A
Surrounding Variants
6 papers
NM_001134363.3
p.R673W
c.2017C>T
2 papers
NM_001134363.3
p.R673Q
c.2018G>A
1 paper
NM_001134363.3
p.D674A
c.2021A>C
4 papers
NM_001134363.3
p.D674G
c.2021A>G
1 paper
NM_001134363.3
p.W669*
c.2007G>A
1 paper
NM_001134363.3
p.W669*
c.2006G>A
1 paper
NM_001134363.3
p.D668E
c.2004C>A
1 paper
NM_001134363.3
p.D668E
c.2004C>G
1 paper
NM_001134363.3
p.E677fs
c.2029_2030fs
3 papers
NM_001134363.3
p.R666Q
c.1997G>A
2 papers
NM_001134363.3
p.R666W
c.1996C>T
1 paper
NM_001134363.3
p.S665C
c.1994C>G
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