Varaico: Literature-Extracted Genetic Variants

Gene:LAMP2
Variant:p.S12*

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
1 paper
NM_002294.3
p.S12*
c.35C>G
Surrounding Variants
2 papers
NM_002294.3
p.S12insFs
c.34dupT
4 papers
NM_002294.3
p.S12*
c.35C>A
2 papers
NM_002294.3
p.P10_S12insFs
c.29_35dup7
1 paper
NM_002294.3
p.S12fs
c.34_35fs
2 papers
NM_002294.3
p.G13W
c.37G>T
1 paper
NM_002294.3
p.G13fs
c.37_38fs
1 paper
NM_002294.3
p.G11fs
c.31_32fs
1 paper
NM_002294.3
p.G11delFs
c.32delC
1 paper
NM_002294.3
p.G13E
c.38G>A
1 paper
NM_002294.3
p.G13fs
c.37_38fs
2 papers
NM_002294.3
p.P10delFs
c.29delG
2 papers
NM_002294.3
p.P10fs
c.28_29fs
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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."