Varaico: Literature-Extracted Genetic Variants

MBNL2

43 papers

RefSeq Summary

This gene is a member of the muscleblind protein family which was initially described in Drosophila melanogaster. This gene encodes a C3H-type zinc finger protein that modulates alternative splicing o...

Pfam Domains

zf-CCCHaa 15–40UCSCZinc finger C-x8-C-x5-C-x3-H type (and similar)

zf-CCCH_10aa 48–86UCSCZAP-like CCCH zinc finger

zf-CCCHaa 177–203UCSCZinc finger C-x8-C-x5-C-x3-H type (and similar)

zf-CCCH_10aa 213–251UCSCZAP-like CCCH zinc finger

Gene Aliases

HGNC Name

muscleblind like splicing regulator 2

HGNC Alias Symbols

MBLL; MBLL39

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001382683.1

p.K41*

c.121A>T

Surrounding Variants

1 paper

NM_001382683.1

p.E17Q

c.49G>C

1 paper

NM_001382683.1

p.D10A

c.29A>C