Varaico: Literature-Extracted Genetic Variants

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_10aa 49–87UCSCZAP-like CCCH zinc finger

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.M257_A258Splc

c.772-5C>T

Surrounding Variants

1 paper

NM_001386889.1

p.T280I

c.839C>T

1 paper

NM_001386889.1

p.G308Splc

c.923-11G>A

1 paper

NM_001386889.1

p.R241K

c.722G>A

1 paper

NM_001386889.1

p.G222S

c.664G>A

1 paper

NM_001386889.1

p.R196S

c.586C>A

1 paper

NM_001386889.1

p.G157R

c.469G>A

1 paper

NM_001170702.3

p.G43delFs

c.129delC