Varaico: Literature-Extracted Genetic Variants

Gene:POLDIP3

POLDIP3

58 papers

RefSeq Summary

This gene encodes an RRM (RNA recognition motif)-containing protein that participates in the regulation of translation by recruiting ribosomal protein S6 kinase beta-1 to mRNAs. Alternative splicing r...

Pfam Domains

RRM_1aa 282–345UCSCRNA recognition motif

Gene Aliases

HGNC Name

DNA polymerase delta interacting protein 3

HGNC Alias Symbols

PDIP46; KIAA1649; SKAR; PDIP3

Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
1 paper
NM_032311.5
p.L6V
c.16C>G
1 paper
NM_032311.5
p.A16V
c.47C>T
1 paper
NM_032311.5
p.K18I
c.53A>T
1 paper
NM_032311.5
p.G29D
c.86G>A
1 paper
NM_032311.5
p.Q43L
c.128A>T
1 paper
NM_032311.5
p.Q52fs
c.154_155fs
1 paper
NM_032311.5
p.S63L
c.188C>T
1 paper
NM_032311.5
p.R84*
c.250C>T
1 paper
NM_032311.5
p.R84Q
c.251G>A
1 paper
NM_032311.5
p.A94V
c.281C>T
1 paper
NM_032311.5
p.R118Q
c.353G>A
1 paper
NM_032311.5
p.F131L
c.391T>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."