Varaico: Literature-Extracted Genetic Variants

Gene:LAPTM4A
Variant:p.T27I

LAPTM4A

22 papers

RefSeq Summary

This gene encodes a protein that has four predicted transmembrane domains. The function of this gene has not yet been determined; however, studies in the mouse homolog suggest a role in the transport ...

Pfam Domains

Mtpaa 38–157UCSCGolgi 4-transmembrane spanning transporter
Mtpaa 145–232UCSCGolgi 4-transmembrane spanning transporter

Gene Aliases

HGNC Name

lysosomal protein transmembrane 4 alpha

HGNC Previous Symbol

MBNT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014713.5
p.T27I
c.80C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."