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

1–12 of 79 variants

2 papers

NM_001326342.2

p.R139insFs

c.417dupA

2 papers

NM_001326342.2

p.R506G

c.1516C>G

2 papers

NM_001025077.3

p.R493H

c.1478G>A

2 papers

NM_001326342.2

p.P520S

c.1558C>T

1 paper

NM_001326342.2

p.M1Fs

c.3delinsGTTTTTCTFs

1 paper

NM_001326342.2

p.T2S

c.4A>T

1 paper

NM_001326342.2

p.M13R

c.38T>G

1 paper

NM_001326342.2

p.P22S

c.64C>T

1 paper

NM_001326342.2

p.I25Splc

c.74+5672G>C

1 paper

NM_001326342.2

p.I25Splc

c.74+38679C>G

1 paper

NM_001326342.2

p.A29T

c.85G>A

1 paper

NM_001025077.3

p.N26T

c.77A>C