Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.R761Q

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
5 papers
NM_001134363.3
p.R761Q
c.2282G>A
Surrounding Variants
1 paper
NM_001134363.3
p.R761W
c.2281C>T
1 paper
NM_001134363.3
p.R761delFs
c.2283delG
1 paper
NM_001134363.3
p.E763fs
c.2287_2288fs
4 papers
NM_001134363.3
p.R755H
c.2264G>A
1 paper
NM_001134363.3
p.S768*
c.2303C>A
1 paper
NM_001134363.3
p.S768S
c.2304G>A
1 paper
NM_001134363.3
p.Y752N
c.2254T>A
1 paper
NM_001134363.3
p.Y752_K753ins7
c.2254_2258ins21
2 papers
NM_001134363.3
p.K773R
c.2318A>G
3 papers
NM_001134363.3
p.H747Y
c.2239C>T
1 paper
NM_001134363.3
p.D777Y
c.2329G>T
3 papers
NM_001134363.3
p.A778V
c.2333C>T
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