Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.R636C

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
34 papers
NM_001134363.3
p.R636C
c.1906C>T
Surrounding Variants
56 papers
NM_001134363.3
p.R636S
c.1906C>A
46 papers
NM_001134363.3
p.R636H
c.1907G>A
3 papers
NM_001134363.3
p.R636L
c.1907G>T
1 paper
NM_001134363.3
p.S635S
c.1905T>A
2 papers
NM_001134363.3
p.S635Y
c.1904C>A
8 papers
NM_001134363.3
p.S635C
c.1904C>G
2 papers
NM_001134363.3
p.S635F
c.1904C>T
1 paper
NM_001134363.3
p.R636R
c.1908T>C
28 papers
NM_001134363.3
p.S637G
c.1909A>G
45 papers
NM_001134363.3
p.S635A
c.1903T>G
5 papers
NM_001134363.3
p.S635fs
c.1903_1904fs
1 paper
NM_001134363.3
p.S635fs
c.1903_1904fs
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