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.N77K

c.231C>G

Surrounding Variants

1 paper

NM_001326342.2

p.I76N

c.227T>A

1 paper

NM_001326342.2

p.Y74C

c.221A>G

1 paper

NM_001326342.2

p.G71E

c.212G>A

1 paper

NM_001025077.3

p.Q81fs

c.241_242fs

1 paper

NM_001326342.2

p.K90I

c.269A>T

1 paper

NM_001326342.2

p.G91Splc

c.271+6G>A

1 paper

NM_001326342.2

p.G91Splc

c.271+6G>T

1 paper

NM_001326342.2

p.P44_D45insFs

c.132_133insC

1 paper

NM_001025077.3

p.Q34*

c.100C>T

1 paper

NM_001025077.3

p.N26T

c.77A>C

1 paper

NM_001326342.2

p.A29T

c.85G>A