Varaico: Literature-Extracted Genetic Variants

MBNL1

140 papers

RefSeq Summary

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

Pfam Domains

zf-CCCH_10aa 1–29UCSCZAP-like CCCH zinc finger

zf-CCCH_2aa 19–39UCSCRNA-binding, Nab2-type zinc finger

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

zf-CCCHaa 123–149UCSCZinc finger C-x8-C-x5-C-x3-H type (and similar)

Gene Aliases

HGNC Name

muscleblind like splicing regulator 1

HGNC Alias Symbols

KIAA0428; EXP42; EXP40; EXP35; EXP

Papers

RefSeq ID

Protein change

DNA change

1–12 of 93 variants

6 papers

NM_021038.5

p.D10A

c.29A>C

4 papers

NM_021038.5

p.V45A

c.134T>C

2 papers

NM_021038.5

p.S28*

c.83C>G

2 papers

NM_021038.5

p.V45V

c.135T>A

2 papers

NM_021038.5

p.N65S

c.194A>G

2 papers

NM_021038.5

p.S331R

c.991A>C

2 papers

NM_021038.5

p.S331R

c.993T>A

2 papers

NM_021038.5

p.S331R

c.993T>G

1 paper

NM_021038.5

p.M1K

c.2T>A

1 paper

NM_021038.5

p.V3I

c.7G>A

1 paper

NM_021038.5

p.I8delFs

c.23delT

1 paper

NM_021038.5

p.R9Q

c.26G>A