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

Selected Variant

1 paper

NM_021038.5

p.D31A

c.92A>C

Surrounding Variants

1 paper

NM_021038.5

p.D31E

c.93C>A

1 paper

NM_021038.5

p.D31E

c.93C>G

1 paper

NM_021038.5

p.D31H

c.91G>C

1 paper

NM_021038.5

p.D31Y

c.91G>T

1 paper

NM_021038.5

p.T32M

c.95C>T

1 paper

NM_021038.5

p.S28*

c.83C>A

2 papers

NM_021038.5

p.S28*

c.83C>G

1 paper

NM_021038.5

p.E21A

c.62A>C

1 paper

NM_021038.5

p.C43S

c.127T>A

1 paper

NM_021038.5

p.C43S

c.128G>C

1 paper

NM_021038.5

p.Q44_V45insFs

c.132_133insTT

4 papers

NM_021038.5

p.V45A

c.134T>C