Varaico: Literature-Extracted Genetic Variants

Gene:PTBP3
Variant:p.A12T

PTBP3

42 papers

RefSeq Summary

The protein encoded by this gene binds RNA and is a regulator of cell differentiation. The encoded protein preferentially binds to poly(G) and poly(U) sequences in vitro. Several transcript variants e...

Pfam Domains

RRM_8aa 171–258UCSCRRM-like domain
RRM_8aa 171–258UCSCRRM-like domain
RRM_5aa 329–454UCSCRNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)
RRM_5aa 329–454UCSCRNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)
RRM_10aa 467–552UCSCRRM domain

Gene Aliases

HGNC Name

polypyrimidine tract binding protein 3

HGNC Previous Symbol

ROD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001163788.4
p.A12T
c.34G>A
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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."