Varaico: Literature-Extracted Genetic Variants

Gene:LAPTM4A
Variant:p.L144_P145Splc

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.L144_P145Splc
c.433-33T>C
Surrounding Variants
1 paper
NM_014713.5
p.L144_P145Splc
c.433-63C>T
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
1 paper
NM_014713.5
p.I173N
c.518T>A
1 paper
NM_014713.5
p.Y187N
c.559T>A
1 paper
NM_014713.5
p.V195L
c.583G>T
1 paper
NM_014713.5
p.V195L
c.583G>C
1 paper
NM_014713.5
p.P196P
c.588G>A
1 paper
NM_014713.5
p.P202A
c.604C>G
1 paper
NM_014713.5
p.P208A
c.622C>G
1 paper
NM_014713.5
p.Q209_Y210Splc
c.627+89C>T
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