Varaico: Literature-Extracted Genetic Variants

Gene:PABPC5
Variant:p.M33I

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.M33I
c.99G>C
Surrounding Variants
1 paper
NM_080832.3
p.M33I
c.99G>A
1 paper
NM_080832.3
p.M33I
c.99G>T
1 paper
NM_080832.3
p.R39R
c.117G>A
1 paper
NM_080832.3
p.D26N
c.76G>A
1 paper
NM_080832.3
p.R45*
c.133C>T
1 paper
NM_080832.3
p.R45Q
c.134G>A
1 paper
NM_080832.3
p.P53L
c.158C>T
1 paper
NM_080832.3
p.K11R
c.32A>G
1 paper
NM_080832.3
p.P6S
c.16C>T
1 paper
NM_080832.3
p.E5K
c.13G>A
1 paper
NM_080832.3
p.M1K
c.2T>A
1 paper
NM_080832.3
p.R90H
c.269G>A
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