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.D196N

c.586G>A

Surrounding Variants

1 paper

NM_001382683.1

p.A203T

c.607G>A

1 paper

NM_001382683.1

p.D209N

c.625G>A

1 paper

NM_001382683.1

p.T214I

c.641C>T

1 paper

NM_001382683.1

p.R225C

c.673C>T

1 paper

NM_001382683.1

p.R225H

c.674G>A

1 paper

NM_001382683.1

p.T152M

c.455C>T

1 paper

NM_001382683.1

p.P145L

c.434C>T

1 paper

NM_001382683.1

p.T126M

c.377C>T

1 paper

NM_001382683.1

p.A121T

c.361G>A

2 papers

NM_001382683.1

p.G119S

c.355G>A