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.G144insFs

c.432dupA

Surrounding Variants

1 paper

NM_001326342.2

p.L141fs

c.421_422fs

2 papers

NM_001326342.2

p.R139insFs

c.417dupA

1 paper

NM_001326342.2

p.R139fs

c.415_416fs

1 paper

NM_001025077.3

p.N144fs

c.430_431fs

1 paper

NM_001326342.2

p.E152Q

c.454G>C

1 paper

NM_001326342.2

p.S130G

c.388A>G

1 paper

NM_001326342.2

p.A182P

c.544G>C

1 paper

NM_001326342.2

p.Q203*

c.607C>T