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.F63L

c.187T>C

Surrounding Variants

1 paper

NM_001376376.1

p.F63L

c.189C>G

1 paper

NM_001376376.1

p.F63L

c.189C>A

1 paper

NM_001376376.1

p.Y66N

c.196T>A

1 paper

NM_001376376.1

p.D58N

c.172G>A

1 paper

NM_001376376.1

p.E56Q

c.166G>C

1 paper

NM_001376376.1

p.K44_M45insFs

c.132_133insC

1 paper

NM_001376376.1

p.N29I

c.86A>T

1 paper

NM_001376376.1

p.V24I

c.70G>A

1 paper

NM_001376376.1

p.Q103R

c.308A>G

1 paper

NM_001376376.1

p.H107R

c.320A>G

1 paper

NM_001376376.1

p.K122K

c.366A>G

1 paper

NM_001376376.1

p.A124P

c.370G>C