Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.R634Q

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
58 papers
NM_001134363.3
p.R634Q
c.1901G>A
Surrounding Variants
4 papers
NM_001134363.3
p.R634P
c.1901G>C
17 papers
NM_001134363.3
p.R634L
c.1901G>T
50 papers
NM_001134363.3
p.R634W
c.1900C>T
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
2 papers
NM_001134363.3
p.S635Y
c.1904C>A
8 papers
NM_001134363.3
p.S635C
c.1904C>G
22 papers
NM_001134363.3
p.P633L
c.1898C>T
2 papers
NM_001134363.3
p.S635F
c.1904C>T
1 paper
NM_001134363.3
p.S635S
c.1905T>A
56 papers
NM_001134363.3
p.R636S
c.1906C>A
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