Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.R666Q

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.R666Q
c.1997G>A
Surrounding Variants
2 papers
NM_001134363.3
p.R666W
c.1996C>T
1 paper
NM_001134363.3
p.S665C
c.1994C>G
1 paper
NM_001134363.3
p.P664P
c.1992C>T
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.W669*
c.2006G>A
1 paper
NM_001134363.3
p.W669*
c.2007G>A
1 paper
NM_001134363.3
p.P662S
c.1984C>T
1 paper
NM_001134363.3
p.P661R
c.1982C>G
1 paper
NM_001134363.3
p.S660R
c.1980C>A
1 paper
NM_001134363.3
p.S660R
c.1980C>G
3 papers
NM_001134363.3
p.G672S
c.2014G>A
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