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

2 papers

NM_021038.5

p.S331R

c.993T>G

Surrounding Variants

2 papers

NM_021038.5

p.S331R

c.993T>A

2 papers

NM_021038.5

p.S331R

c.991A>C

1 paper

NM_021038.5

p.G338S

c.1012G>A

1 paper

NM_021038.5

p.A347V

c.1040C>T

1 paper

NM_021038.5

p.A351V

c.1052C>T

1 paper

NM_021038.5

p.T380A

c.1138A>G

1 paper

NM_021038.5

p.G298S

c.892G>A

1 paper

NM_021038.5

p.K287R

c.860A>G

1 paper

NM_021038.5

p.K281R

c.842A>G

1 paper

NM_021038.5

p.P280A

c.838C>G

1 paper

NM_021038.5

p.P277L

c.830C>T

1 paper

NM_021038.5

p.L276_P277delFs

c.828_831del4