Varaico: Literature-Extracted Genetic Variants

Gene:RBM48

RBM48

22 papers

Pfam Domains

RBM48_helicalaa 128–164UCSCRNA-binding protein 48 helical domain

Gene Aliases

HGNC Name

RNA binding motif protein 48

HGNC Previous Symbol

C7orf64

Papers
RefSeq ID
Protein change
DNA change
1–12 of 19 variants
2 papers
NM_032120.4
p.R284H
c.851G>A
2 papers
NM_032120.4
p.G310R
c.928G>A
2 papers
NM_032120.4
p.G310R
c.928G>C
1 paper
NM_032120.4
p.E7G
c.20A>G
1 paper
NM_032120.4
p.L8Q
c.23T>A
1 paper
NM_032120.4
p.D22N
c.64G>A
1 paper
NM_032120.4
p.T23A
c.67A>G
1 paper
NM_032120.4
p.A25T
c.73G>A
1 paper
NM_032120.4
p.A83S
c.247G>T
1 paper
NM_032120.4
p.F113V
c.337T>G
1 paper
NM_032120.4
p.R132fs
c.394_395fs
1 paper
NM_032120.4
p.R132insFs
c.396dupA
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."