Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.T653I

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
8 papers
NM_001134363.3
p.T653I
c.1958C>T
Surrounding Variants
1 paper
NM_001134363.3
p.S657T
c.1969T>A
1 paper
NM_001134363.3
p.S657C
c.1970C>G
2 papers
NM_001134363.3
p.H648Q
c.1944C>A
2 papers
NM_001134363.3
p.H648Q
c.1944C>G
1 paper
NM_001134363.3
p.S658C
c.1973C>G
1 paper
NM_001134363.3
p.S647A
c.1939T>G
1 paper
NM_001134363.3
p.S660fs
c.1978_1979fs
1 paper
NM_001134363.3
p.S660R
c.1978A>C
1 paper
NM_001134363.3
p.R646S
c.1938G>C
1 paper
NM_001134363.3
p.R646S
c.1938G>T
1 paper
NM_001134363.3
p.S660insFs
c.1979_1980insA
1 paper
NM_001134363.3
p.S660R
c.1980C>A
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