Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.L1002V

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
2 papers
NM_001134363.3
p.L1002V
c.3004C>G
Surrounding Variants
2 papers
NM_001134363.3
p.D1005G
c.3014A>G
3 papers
NM_001134363.3
p.V997M
c.2989G>A
1 paper
NM_001134363.3
p.V997L
c.2989G>C
1 paper
NM_001134363.3
p.V997L
c.2989G>T
1 paper
NM_001134363.3
p.D996D
c.2988C>T
3 papers
NM_001134363.3
p.R1008W
c.3022C>T
2 papers
NM_001134363.3
p.D996Y
c.2986G>T
2 papers
NM_001134363.3
p.R1008Q
c.3023G>A
1 paper
NM_001134363.3
p.D994D
c.2982C>T
1 paper
NM_001134363.3
p.E1012G
c.3035A>G
1 paper
NM_001134363.3
p.G1016S
c.3046G>A
4 papers
NM_001134363.3
p.G1016A
c.3047G>C
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