Varaico: Literature-Extracted Genetic Variants

Gene:RBM17

RBM17

43 papers

RefSeq Summary

This gene encodes an RNA binding protein. The encoded protein is part of the spliceosome complex and functions in the second catalytic step of mRNA splicing. Alternatively spliced transcript variants ...

Pfam Domains

G-patchaa 235–279UCSCG-patch domain
RRM_1aa 323–383UCSCRNA recognition motif

Gene Aliases

HGNC Name

RNA binding motif protein 17

HGNC Alias Symbols

SPF45; MGC14439

Papers
RefSeq ID
Protein change
DNA change
1–12 of 47 variants
1 paper
NM_032905.5
p.S2S
c.6C>T
1 paper
NM_032905.5
p.L7L
c.21A>G
1 paper
NM_032905.5
p.G8V
c.23G>T
1 paper
NM_032905.5
p.G8G
c.24A>G
1 paper
NM_032905.5
p.E10E
c.30G>A
1 paper
NM_032905.5
p.S12insFs
c.35_36insGG
1 paper
NM_032905.5
p.D13insFs
c.37_38ins4
1 paper
NM_032905.5
p.D13_S14insFs
c.39_40ins10
1 paper
NM_032905.5
p.S14insFs
c.41_42ins7
1 paper
NM_032905.5
p.K15ins1
c.44_45insCAA
1 paper
NM_032905.5
p.K15K
c.45A>G
1 paper
NM_032905.5
p.T16insFs
c.46_47insCC
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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."