Varaico: Literature-Extracted Genetic Variants

Gene:LAPTM4A

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
1–12 of 22 variants
1 paper
NM_014713.5
p.T27I
c.80C>T
1 paper
NM_014713.5
p.I45L
c.133A>C
1 paper
NM_014713.5
p.S72S
c.216G>T
1 paper
NM_014713.5
p.V82A
c.245T>C
1 paper
NM_014713.5
p.A85D
c.254C>A
1 paper
NM_014713.5
p.I128V
c.382A>G
1 paper
NM_014713.5
p.Y133H
c.397T>C
1 paper
NM_014713.5
p.L144_P145Splc
c.433-63C>T
1 paper
NM_014713.5
p.L144_P145Splc
c.433-33T>C
1 paper
NM_014713.5
p.F147L
c.439T>C
1 paper
NM_014713.5
p.F147L
c.441T>G
1 paper
NM_014713.5
p.F147L
c.441T>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."