Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.P738fs

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.P738fs
c.2212_2213fs
Surrounding Variants
2 papers
NM_001134363.3
p.P738L
c.2213C>T
1 paper
NM_001134363.3
p.Y737delFs
c.2211delC
2 papers
NM_001134363.3
p.K736R
c.2207A>G
1 paper
NM_001134363.3
p.S740F
c.2219C>T
4 papers
NM_001134363.3
p.E735E
c.2205G>A
4 papers
NM_001134363.3
p.R734Q
c.2201G>A
2 papers
NM_001134363.3
p.R734G
c.2200C>G
1 paper
NM_001134363.3
p.H733_R734ins4
c.2197_2201ins12
3 papers
NM_001134363.3
p.H747Y
c.2239C>T
3 papers
NM_001134363.3
p.E728del1
c.2182_2183delGAA
1 paper
NM_001134363.3
p.P727S
c.2179C>T
2 papers
NM_001134363.3
p.R726*
c.2176C>T
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