Varaico: Literature-Extracted Genetic Variants

Gene:LAPTM5
Variant:p.A61Splc

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
2 papers
NM_006762.3
p.A61Splc
c.182-8C>T
Surrounding Variants
1 paper
NM_006762.3
p.G83S
c.247G>A
1 paper
NM_006762.3
p.V85I
c.253G>A
1 paper
NM_006762.3
p.K86_N87Splc
c.258+249G>C
1 paper
NM_006762.3
p.L58F
c.172C>T
1 paper
NM_006762.3
p.S40S
c.120A>G
1 paper
NM_006762.3
p.V33I
c.97G>A
1 paper
NM_006762.3
p.K86_N87Splc
c.259-96A>G
2 papers
NM_006762.3
p.F95S
c.284T>C
1 paper
NM_006762.3
p.M101I
c.303G>A
1 paper
NM_006762.3
p.D102V
c.305A>T
1 paper
NM_006762.3
p.A124A
c.372C>A
5 papers
NM_006762.3
p.P135S
c.403C>T
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