Varaico: Literature-Extracted Genetic Variants

Gene:PABPC1

PABPC1

269 papers

RefSeq Summary

This gene encodes a poly(A) binding protein. The protein shuttles between the nucleus and cytoplasm and binds to the 3' poly(A) tail of eukaryotic messenger RNAs via RNA-recognition motifs. The bindin...

Pfam Domains

RRM_1aa 13–83UCSCRNA recognition motif
RRM_1aa 101–168UCSCRNA recognition motif
RRM_1aa 193–262UCSCRNA recognition motif
RRM_1aa 296–364UCSCRNA recognition motif
MLLEaa 549–614UCSCMLLE domain

Gene Aliases

HGNC Name

poly(A) binding protein cytoplasmic 1

HGNC Previous Symbols

PAB1; PABPC2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 256 variants
15 papers
NM_002568.4
p.R374C
c.1120C>T
13 papers
NM_002568.4
p.E372G
c.1115A>G
12 papers
NM_002568.4
p.T319I
c.956C>T
12 papers
NM_002568.4
p.Y408F
c.1223A>T
11 papers
NM_002568.4
p.E345*
c.1033G>T
10 papers
NM_002568.4
p.F409L
c.1227C>A
10 papers
NM_002568.4
p.P414S
c.1240C>T
9 papers
NM_002568.4
p.F409L
c.1225T>C
9 papers
NM_002568.4
p.F409L
c.1227C>G
9 papers
NM_002568.4
p.R493C
c.1477C>T
8 papers
NM_002568.4
p.V365L
c.1093G>T
8 papers
NM_002568.4
p.V365L
c.1093G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."