Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.R683K

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.R683K
c.2048G>A
Surrounding Variants
1 paper
NM_001134363.3
p.A682S
c.2044G>T
1 paper
NM_001134363.3
p.E685K
c.2053G>A
7 papers
NM_001134363.3
p.Y681C
c.2042A>G
2 papers
NM_001134363.3
p.E687G
c.2060A>G
10 papers
NM_001134363.3
p.R688*
c.2062C>T
1 paper
NM_001134363.3
p.R688Q
c.2063G>A
1 paper
NM_001134363.3
p.E677fs
c.2029_2030fs
1 paper
NM_001134363.3
p.D674A
c.2021A>C
4 papers
NM_001134363.3
p.D674G
c.2021A>G
2 papers
NM_001134363.3
p.R673Q
c.2018G>A
6 papers
NM_001134363.3
p.R673W
c.2017C>T
3 papers
NM_001134363.3
p.G672S
c.2014G>A
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