Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.R646S

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.R646S
c.1938G>T
Surrounding Variants
1 paper
NM_001134363.3
p.R646S
c.1938G>C
1 paper
NM_001134363.3
p.S647A
c.1939T>G
3 papers
NM_001134363.3
p.P645L
c.1934C>T
2 papers
NM_001134363.3
p.H648Q
c.1944C>A
2 papers
NM_001134363.3
p.H648Q
c.1944C>G
1 paper
NM_001134363.3
p.S642P
c.1924T>C
2 papers
NM_001134363.3
p.R641Q
c.1922G>A
2 papers
NM_001134363.3
p.S640G
c.1918A>G
8 papers
NM_001134363.3
p.T653I
c.1958C>T
2 papers
NM_001134363.3
p.P638Q
c.1913C>A
1 paper
NM_001134363.3
p.P638R
c.1913C>G
48 papers
NM_001134363.3
p.P638L
c.1913C>T
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