Varaico: Literature-Extracted Genetic Variants

CELF1

64 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 18–88UCSCRNA recognition motif

RRM_1aa 110–178UCSCRNA recognition motif

RRM_1aa 403–473UCSCRNA recognition motif

Gene Aliases

HGNC Name

CUGBP Elav-like family member 1

HGNC Previous Symbol

CUGBP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001376376.1

p.H16R

c.47A>G

Surrounding Variants

1 paper

NM_001376376.1

p.M13R

c.38T>G

1 paper

NM_001376376.1

p.P10L

c.29C>T

1 paper

NM_001376376.1

p.P10S

c.28C>T

1 paper

NM_001376376.1

p.V24I

c.70G>A

1 paper

NM_001376376.1

p.V24Splc

c.71+4936T>G