Varaico: Literature-Extracted Genetic Variants

Gene:LAPTM5
Variant:p.D143G

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.D143G
c.428A>G
Surrounding Variants
5 papers
NM_006762.3
p.P135S
c.403C>T
1 paper
NM_006762.3
p.C152Y
c.455G>A
1 paper
NM_006762.3
p.S153T
c.458G>C
1 paper
NM_006762.3
p.T160I
c.479C>T
1 paper
NM_006762.3
p.S166F
c.497C>T
1 paper
NM_006762.3
p.A124A
c.372C>A
1 paper
NM_006762.3
p.D102V
c.305A>T
1 paper
NM_006762.3
p.M101I
c.303G>A
2 papers
NM_006762.3
p.F95S
c.284T>C
1 paper
NM_006762.3
p.K86_N87Splc
c.259-96A>G
1 paper
NM_006762.3
p.F195L
c.583T>C
1 paper
NM_006762.3
p.F195L
c.585C>G
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