Varaico: Literature-Extracted Genetic Variants

Gene:MBNL3
Variant:p.R30Q

MBNL3

25 papers

RefSeq Summary

This gene encodes a member of the muscleblind-like family of proteins. The encoded protein may function in regulation of alternative splicing and may play a role in the pathophysiology of myotonic dys...

Pfam Domains

zf-CCCH_2aa 20–40UCSCRNA-binding, Nab2-type zinc finger
zf-CCCH_2aa 20–40UCSCRNA-binding, Nab2-type zinc finger
zf-CCCH_10aa 49–87UCSCZAP-like CCCH zinc finger
zf-CCCH_10aa 49–87UCSCZAP-like CCCH zinc finger
zf-CCCHaa 175–201UCSCZinc finger C-x8-C-x5-C-x3-H type (and similar)
zf-CCCHaa 175–201UCSCZinc finger C-x8-C-x5-C-x3-H type (and similar)

Gene Aliases

HGNC Name

muscleblind like splicing regulator 3

HGNC Alias Symbols

CHCR; FLJ11316; MBLX39; MBXL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001386889.1
p.R30Q
c.89G>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."