Varaico: Literature-Extracted Genetic Variants

CPEB1

31 papers

RefSeq Summary

This gene encodes a member of the cytoplasmic polyadenylation element binding protein family. This highly conserved protein binds to a specific RNA sequence, called the cytoplasmic polyadenylation ele...

Pfam Domains

CEBP1_Naa 28–334UCSCCytoplasmic polyadenylation element-binding protein 1 N-terminus

RRM_7aa 337–432UCSCRNA recognition motif

CEBP_ZZaa 524–581UCSCCytoplasmic polyadenylation element-binding protein ZZ domain

Gene Aliases

HGNC Name

cytoplasmic polyadenylation element binding protein 1

HGNC Alias Symbol

FLJ13203

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001365242.1

p.I39L

c.115A>C

Surrounding Variants

1 paper

NM_001365242.1

p.I39L

c.115A>T

1 paper

NM_001365242.1

p.D41Y

c.121G>T

1 paper

NM_001365242.1

p.S74N

c.221G>A

1 paper

NM_001365242.1

p.P80fs

c.238_239fs

1 paper

NM_001365242.1

p.G15V

c.44G>T