Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LAPTM5

Variant:p.Y27*

LAPTM5

46 papers

RefSeq Summary

This gene encodes a transmembrane receptor that is associated with lysosomes. The encoded protein, also known as E3 protein, may play a role in hematopoiesis. [provided by RefSeq, Feb 2009].

Pfam Domains

Mtpaa 30–261UCSCGolgi 4-transmembrane spanning transporter

Gene Aliases

HGNC Name

lysosomal protein transmembrane 5

HGNC Previous Name

lysosomal multispanning membrane protein 5

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr1:30757665 G>C

NM_006762.3

p.Y27*

c.81C>G

Exome: 0.0% (AC=1, hom=0)Genome: n/a133 overlapping SVs

Surrounding Variants

1 paper

chr1:30757665 G>T

NM_006762.3

p.Y27*

c.81C>A

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)133 overlapping SVs

1 paper

chr1:30757673 C>T

NM_006762.3

p.A25T

c.73G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a133 overlapping SVs

1 paper

chr1:30757684 G>T

NM_006762.3

p.T21N

c.62C>A

exact variant not in gnomAD133 overlapping SVs

2 papers

chr1:30757693 C>T

NM_006762.3

p.R18H

c.53G>A

Exome: 0.0% (AC=511, hom=7)Genome: 0.0% (AC=55, hom=0)133 overlapping SVs

1 paper

chr1:30757708 C>T

NM_006762.3

p.C13Y

c.38G>A

exact variant not in gnomAD133 overlapping SVs

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."