Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.P638L

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
48 papers
NM_001134363.3
p.P638L
c.1913C>T
Surrounding Variants
2 papers
NM_001134363.3
p.P638Q
c.1913C>A
1 paper
NM_001134363.3
p.P638R
c.1913C>G
3 papers
NM_001134363.3
p.P638A
c.1912C>G
4 papers
NM_001134363.3
p.P638S
c.1912C>T
3 papers
NM_001134363.3
p.S637N
c.1910G>A
28 papers
NM_001134363.3
p.S637G
c.1909A>G
2 papers
NM_001134363.3
p.S640G
c.1918A>G
1 paper
NM_001134363.3
p.R636R
c.1908T>C
46 papers
NM_001134363.3
p.R636H
c.1907G>A
3 papers
NM_001134363.3
p.R636L
c.1907G>T
56 papers
NM_001134363.3
p.R636S
c.1906C>A
34 papers
NM_001134363.3
p.R636C
c.1906C>T
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