Varaico: Literature-Extracted Genetic Variants

Gene:RBM19
Variant:p.A918V

RBM19

80 papers

RefSeq Summary

This gene encodes a nucleolar protein that contains six RNA-binding motifs. The encoded protein may be involved in regulating ribosome biogenesis. Multiple alternatively spliced variants, encoding the...

Pfam Domains

RRM_1aa 4–73UCSCRNA recognition motif
RRM_11aa 296–375UCSCRRM domain
RRM_1aa 404–474UCSCRNA recognition motif
RRM_1aa 589–653UCSCRNA recognition motif
RRM_1aa 732–805UCSCRNA recognition motif
RRM_1aa 834–906UCSCRNA recognition motif

Gene Aliases

HGNC Name

RNA binding motif protein 19

HGNC Alias Symbols

DKFZp586F1023; KIAA0682; Mrd1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016196.4
p.A918V
c.2753C>T
Surrounding Variants
1 paper
NM_016196.4
p.R921W
c.2761C>T
3 papers
NM_016196.4
p.R921Q
c.2762G>A
1 paper
NM_016196.4
p.D911N
c.2731G>A
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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."