Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.P502S

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.P502S
c.1504C>T
Surrounding Variants
3 papers
NM_001134363.3
p.S498R
c.1494C>A
3 papers
NM_001134363.3
p.S498R
c.1494C>G
3 papers
NM_001134363.3
p.S498R
c.1492A>C
1 paper
NM_001134363.3
p.S497_S498insFs
c.1491_1492ins16
2 papers
NM_001134363.3
p.Q496*
c.1486C>T
1 paper
NM_001134363.3
p.T508K
c.1523C>A
1 paper
NM_001134363.3
p.S493T
c.1477T>A
1 paper
NM_001134363.3
p.T509_F510Splc
c.1527+8C>T
5 papers
NM_001134363.3
p.V487M
c.1459G>A
3 papers
NM_001134363.3
p.T484I
c.1451C>T
1 paper
NM_001134363.3
p.L482P
c.1445T>C
1 paper
NM_001134363.3
p.S480*
c.1439C>A
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