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

1–12 of 21 variants

2 papers

NM_001382683.1

p.G119S

c.355G>A

1 paper

NM_001382683.1

p.D10A

c.29A>C

1 paper

NM_001382683.1

p.E17Q

c.49G>C

1 paper

NM_001382683.1

p.K41*

c.121A>T

1 paper

NM_001382683.1

p.S62L

c.185C>T

1 paper

NM_001382683.1

p.R63G

c.187A>G

1 paper

NM_001382683.1

p.E80D

c.240A>C

1 paper

NM_001382683.1

p.E80D

c.240A>T

1 paper

NM_001382683.1

p.T92insFs

c.274dupA

1 paper

NM_001382683.1

p.T92fs

c.274_275fs

1 paper

NM_001382683.1

p.A121T

c.361G>A

1 paper

NM_001382683.1

p.T126M

c.377C>T