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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LAMP3

Variant:p.Q361R

LAMP3

92 papers

RefSeq Summary

Dendritic cells (DCs) are the most potent antigen-presenting cells. Immature DCs efficiently capture antigens and differentiate into interdigitating dendritic cells (IDCs) in lymphoid tissues that ind...

Pfam Domains

Lamp2-like_luminalaa 213–377UCSCLysosome-associated membrane glycoprotein 2-like, luminal domains

Gene Aliases

HGNC Name

lysosomal associated membrane protein 3

HGNC Alias Symbols

TSC403; DC-LAMP; DCLAMP; CD208

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr3:183135752 T>C

NM_014398.4

p.Q361R

c.1082A>G

Lamp2-like_luminal

exact variant not in gnomAD40 overlapping SVs

Surrounding Variants

1 paper

chr3:183135766 G>A

NM_014398.4

p.T356T

c.1068C>T

Lamp2-like_luminal

Exome: 3.1% (AC=45095, hom=900)Genome: 2.4% (AC=3617, hom=69)40 overlapping SVs

1 paper

chr3:183135832 C>T

NM_014398.4

p.G334G

c.1002G>A

Lamp2-like_luminal

Exome: 0.0% (AC=1, hom=0)Genome: n/a40 overlapping SVs

1 paper

chr3:183135834 C>G

NM_014398.4

p.G334R

c.1000G>C

Lamp2-like_luminal

Exome: 0.0% (AC=4, hom=0)Genome: n/a40 overlapping SVs

1 paper

chr3:183135834 C>T

NM_014398.4

p.G334R

c.1000G>A

Lamp2-like_luminal

Exome: 0.0% (AC=70, hom=0)Genome: 0.0% (AC=9, hom=0)40 overlapping SVs

1 paper

chr3:183135866 T>G

NM_014398.4

p.K323T

c.968A>C

Lamp2-like_luminal

Exome: 0.0% (AC=131, hom=0)Genome: 0.1% (AC=128, hom=0)40 overlapping SVs

10 papers

chr3:183135882 T>C

NM_014398.4

p.I318V

c.952A>G

Lamp2-like_luminal

Exome: 70.9% (AC=1035093, hom=374334)Genome: 58.9% (AC=89477, hom=29354)40 overlapping SVs

1 paper

chr3:183135888 C>A

NM_014398.4

p.E316Splc

c.947-1G>T

exact variant not in gnomAD40 overlapping SVs

1 paper

chr3:183140550 CG>C

NM_014398.4

p.T311delFs

c.933delG

Lamp2-like_luminal

exact variant not in gnomAD40 overlapping SVs

2 papers

chr3:183140575 GATATA>G

NM_014398.4

p.Y302_I303delFs

c.904_908del5

Lamp2-like_luminal

Exome: 0.0% (AC=153, hom=0)Genome: 0.0% (AC=57, hom=0)40 overlapping SVs

1 paper

chr3:183140580 ATA>N

NM_014398.4

p.Y302fs

c.904_905fs

Lamp2-like_luminal

exact variant not in gnomAD40 overlapping SVs

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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."