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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LAMP3

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

1–12 of 67 variants

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

3 papers

chr3:183152401 C>G

NM_014398.4

p.G288R

c.862G>C

Lamp2-like_luminal

exact variant not in gnomAD41 overlapping SVs

3 papers

chr3:183152401 C>T

NM_014398.4

p.G288R

c.862G>A

Lamp2-like_luminal

Exome: 0.0% (AC=16, hom=0)Genome: 0.0% (AC=7, hom=0)41 overlapping SVs

2 papers

chr3:183154280 T>G

NM_014398.4

p.Q54P

c.161A>C

Exome: 0.0% (AC=300, hom=0)Genome: 0.0% (AC=38, hom=0)41 overlapping SVs

2 papers

chr3:183152460 G>A

NM_014398.4

p.T268M

c.803C>T

Lamp2-like_luminal

Exome: 0.0% (AC=53, hom=0)Genome: 0.0% (AC=45, hom=0)41 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

2 papers

chr3:183124214 A>G

NM_014398.4

p.V373A

c.1118T>C

Lamp2-like_luminal

Exome: 0.0% (AC=2, hom=0)Genome: n/a40 overlapping SVs

1 paper

chr3:183162654 A>G

NM_014398.4

p.M1T

c.2T>C

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

1 paper

chr3:183162618 G>T

NM_014398.4

p.A13E

c.38C>A

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

1 paper

chr3:183162606 C>T

NM_014398.4

p.V17Splc

c.49+1G>A

Exome: 0.0% (AC=18, hom=0)Genome: n/a40 overlapping SVs

1 paper

chr3:183154314 C>A

NM_014398.4

p.A43S

c.127G>T

exact variant not in gnomAD41 overlapping SVs

1 paper

chr3:183154311 T>A

NM_014398.4

p.T44S

c.130A>T

exact variant not in gnomAD41 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."