Varaico: Literature-Extracted Genetic Variants

Gene:LAMP2
Variant:p.V288_K289Splc

LAMP2

488 papers

RefSeq Summary

The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cell metastasis. It may ...

Pfam Domains

Lamp2-like_luminalaa 207–369UCSCLysosome-associated membrane glycoprotein 2-like, luminal domains
Lamp2_2ndaa 377–408UCSCLysosome-associated membrane glycoprotein 2, transmembrane segment

Gene Aliases

HGNC Name

lysosomal associated membrane protein 2

HGNC Alias Symbol

CD107b

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_002294.3
p.V288_K289Splc
c.864+1G>T
Surrounding Variants
4 papers
NM_002294.3
p.V288_K289Splc
c.864+1G>A
3 papers
NM_002294.3
p.V288_K289Splc
c.864+2T>C
4 papers
NM_002294.3
p.V288V
c.864G>A
3 papers
NM_002294.3
p.V288_K289Splc
c.864+4A>G
5 papers
NM_002294.3
p.V288_K289Splc
c.864+5G>C
5 papers
NM_002294.3
p.V288_K289Splc
c.864+5G>A
1 paper
NM_002294.3
p.F286delFs
c.858delA
2 papers
NM_002294.3
p.F284delFs
c.851_852delAA
1 paper
NM_002294.3
p.F284fs
c.850_851fs
1 paper
NM_002294.3
p.L282R
c.845T>G
3 papers
NM_002294.3
p.Y281*
c.843T>G
2 papers
NM_002294.3
p.Y281*
c.843T>A
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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."