Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.G697R

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
5 papers
NM_001134363.3
p.G697R
c.2089G>A
Surrounding Variants
4 papers
NM_001134363.3
p.G697R
c.2089G>C
1 paper
NM_001134363.3
p.D699_D702del4
c.2095_2105del12
1 paper
NM_001134363.3
p.R703G
c.2107A>G
3 papers
NM_001134363.3
p.R703K
c.2108G>A
10 papers
NM_001134363.3
p.R703S
c.2109G>C
9 papers
NM_001134363.3
p.R703S
c.2109G>T
1 paper
NM_001134363.3
p.R688Q
c.2063G>A
2 papers
NM_001134363.3
p.P706T
c.2116C>A
10 papers
NM_001134363.3
p.R688*
c.2062C>T
2 papers
NM_001134363.3
p.E687G
c.2060A>G
1 paper
NM_001134363.3
p.E685K
c.2053G>A
1 paper
NM_001134363.3
p.R683K
c.2048G>A
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