Varaico: Literature-Extracted Genetic Variants

Gene:LAPTM5
Variant:p.E240K

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006762.3
p.E240K
c.718G>A
Surrounding Variants
1 paper
NM_006762.3
p.S247L
c.740C>T
1 paper
NM_006762.3
p.K233_V234Splc
c.700-4C>T
1 paper
NM_006762.3
p.P258A
c.772C>G
4 papers
NM_006762.3
p.R226K
c.677G>A
1 paper
NM_006762.3
p.V209M
c.625G>A
1 paper
NM_006762.3
p.F195L
c.585C>G
1 paper
NM_006762.3
p.F195L
c.585C>A
1 paper
NM_006762.3
p.F195L
c.583T>C
1 paper
NM_006762.3
p.S166F
c.497C>T
1 paper
NM_006762.3
p.T160I
c.479C>T
1 paper
NM_006762.3
p.S153T
c.458G>C
1 paper
NM_006762.3
p.C152Y
c.455G>A
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