Varaico: Literature-Extracted Genetic Variants

Gene:PABPC4
Variant:p.S319insFs

PABPC4

71 papers

RefSeq Summary

Poly(A)-binding proteins (PABPs) bind to the poly(A) tail present at the 3-prime ends of most eukaryotic mRNAs. PABPC4 or IPABP (inducible PABP) was isolated as an activation-induced T-cell mRNA encod...

Pfam Domains

RRM_1aa 13–83UCSCRNA recognition motif
RRM_1aa 101–168UCSCRNA recognition motif
RRM_1aa 193–261UCSCRNA recognition motif
RRM_1aa 296–364UCSCRNA recognition motif
MLLEaa 558–623UCSCMLLE domain

Gene Aliases

HGNC Name

poly(A) binding protein cytoplasmic 4

HGNC Alias Symbols

iPABP; APP-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001135653.2
p.S319insFs
c.956_957insA
Surrounding Variants
2 papers
NM_001135653.2
p.I320fs
c.958_959fs
1 paper
NM_001135653.2
p.D307Y
c.919G>T
2 papers
NM_001135653.2
p.I298L
c.892A>C
2 papers
NM_001135653.2
p.K324_V325Splc
c.972+53A>T
1 paper
NM_001135653.2
p.V294A
c.881T>C
2 papers
NM_001135653.2
p.Q292_G293Splc
c.877-387C>T
2 papers
NM_001135653.2
p.K324_V325Splc
c.972+704C>G
1 paper
NM_001135653.2
p.R290Q
c.869G>A
1 paper
NM_001135653.2
p.Q282*
c.844C>T
1 paper
NM_001135653.2
p.E281*
c.841G>T
1 paper
NM_001135653.2
p.E275Q
c.823G>C
1 paper
NM_001135653.2
p.R272Q
c.815G>A
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