Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.D888N

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
25 papers
NM_001134363.3
p.D888N
c.2662G>A
Surrounding Variants
1 paper
NM_001134363.3
p.E890insFs
c.2670dupG
1 paper
NM_001134363.3
p.S891T
c.2672G>C
2 papers
NM_001134363.3
p.S893R
c.2677A>C
2 papers
NM_001134363.3
p.S893R
c.2679T>A
2 papers
NM_001134363.3
p.S893R
c.2679T>G
1 paper
NM_001134363.3
p.E896K
c.2686G>A
1 paper
NM_001134363.3
p.E896fs
c.2686_2687fs
2 papers
NM_001134363.3
p.E896delFs
c.2687delA
1 paper
NM_001134363.3
p.E896fs
c.2686_2687fs
3 papers
NM_001134363.3
p.M905K
c.2714T>A
2 papers
NM_001134363.3
p.E907K
c.2719G>A
4 papers
NM_001134363.3
p.L908P
c.2723T>C
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