Varaico: Literature-Extracted Genetic Variants

PABPC5

44 papers

RefSeq Summary

This gene encodes a protein that binds to the polyA tail found at the 3' end of most eukaryotic mRNAs. It is thought to play a role in the regulation of mRNA metabolic processes in the cytoplasm. This...

Pfam Domains

RRM_1aa 20–90UCSCRNA recognition motif

RRM_1aa 108–176UCSCRNA recognition motif

RRM_1aa 201–270UCSCRNA recognition motif

RRM_1aa 304–372UCSCRNA recognition motif

Gene Aliases

HGNC Name

poly(A) binding protein cytoplasmic 5

HGNC Alias Symbol

PABP5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_080832.3

p.G326fs

c.976_977fs

Surrounding Variants

1 paper

NM_080832.3

p.G326delFs

c.976delG

1 paper

NM_080832.3

p.K319insFs

c.956_957insA

1 paper

NM_080832.3

p.L318Q

c.953T>A

1 paper

NM_080832.3

p.I306T

c.917T>C

1 paper

NM_080832.3

p.E352G

c.1055A>G

1 paper

NM_080832.3

p.A354D

c.1061C>A

1 paper

NM_080832.3

p.A357S

c.1069G>T

1 paper

NM_080832.3

p.R290W

c.868C>T

1 paper

NM_080832.3

p.R286Q

c.857G>A

1 paper

NM_080832.3

p.R273*

c.817C>T

1 paper

NM_080832.3

p.S263F

c.788C>T

1 paper

NM_080832.3

p.H249H

c.747C>T