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.N439N

c.1317C>T

Surrounding Variants

1 paper

NM_030594.5

p.G450R

c.1348G>C

1 paper

NM_001365242.1

p.V480_A482delFs

c.1438_1444del7

1 paper

NM_001365242.1

p.R310G

c.928C>G

1 paper

NM_001365242.1

p.E294K

c.880G>A

1 paper

NM_030594.5

p.M233I

c.699G>T

1 paper

NM_030594.5

p.M233I

c.699G>C

1 paper

NM_030594.5

p.M233I

c.699G>A

1 paper

NM_001365242.1

p.S207A

c.619T>G

1 paper

NM_001365242.1

p.R200Q

c.599G>A

1 paper

NM_030594.5

p.R166I

c.497G>T

1 paper

NM_001365242.1

p.V192F

c.574G>T

1 paper

NM_001365242.1

p.P190fs

c.568_569fs