Varaico: Literature-Extracted Genetic Variants

CELF2

72 papers

RefSeq Summary

Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM ...

Pfam Domains

RRM_1aa 42–113UCSCRNA recognition motif

RRM_1aa 134–202UCSCRNA recognition motif

RRM_1aa 438–508UCSCRNA recognition motif

Gene Aliases

HGNC Name

CUGBP Elav-like family member 2

HGNC Previous Symbol

CUGBP2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001326342.2

p.Q256Q

c.768G>A

Surrounding Variants

1 paper

NM_001326342.2

p.A259_L260Splc

c.777+28C>A

1 paper

NM_001025077.3

p.Q230*

c.688C>T

1 paper

NM_001326342.2

p.Q230R

c.689A>G

1 paper

NM_001326342.2

p.R227C

c.679C>T

1 paper

NM_001326342.2

p.Q203*

c.607C>T

1 paper

NM_001326342.2

p.A182P

c.544G>C

1 paper

NM_001326342.2

p.F273F

c.819C>T

1 paper

NM_001025077.3

p.G268C

c.802G>T

1 paper

NM_001326342.2

p.G275D

c.824G>A