Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.K1067R

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.K1067R
c.3200A>G
Surrounding Variants
1 paper
NM_001134363.3
p.P1059R
c.3176C>G
1 paper
NM_001134363.3
p.G1075E
c.3224G>A
4 papers
NM_001134363.3
p.R1057Q
c.3170G>A
1 paper
NM_001134363.3
p.R1057W
c.3169C>T
11 papers
NM_001134363.3
p.P1081R
c.3242C>G
1 paper
NM_001134363.3
p.P1081L
c.3242C>T
2 papers
NM_001134363.3
p.L1082R
c.3245T>G
1 paper
NM_001134363.3
p.E1083D
c.3249G>C
1 paper
NM_001134363.3
p.E1083D
c.3249G>T
1 paper
NM_001134363.3
p.S1087fs
c.3259_3260fs
1 paper
NM_001134363.3
p.S1087insFs
c.3260_3261insC
2 papers
NM_001134363.3
p.S1087_P1088Fs
c.3261_3262delinsGFs
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