Varaico: Literature-Extracted Genetic Variants

Gene:LAMP2
Variant:p.L150H

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.L150H
c.449T>A
Surrounding Variants
2 papers
NM_002294.3
p.D149_L150delFs
c.445_449del5
2 papers
NM_002294.3
p.F151fs
c.451_452fs
1 paper
NM_002294.3
p.F151C
c.452T>G
3 papers
NM_002294.3
p.F151fs
c.451_452fs
1 paper
NM_002294.3
p.N148_D149insFs
c.444_445insT
2 papers
NM_002294.3
p.D149fs
c.445_446fs
6 papers
NM_002294.3
p.F151delFs
c.453delA
1 paper
NM_002294.3
p.P146_L147insFs
c.436_440dup5
1 paper
NM_002294.3
p.L147fs
c.439_440fs
5 papers
NM_002294.3
p.L147*
c.440T>A
1 paper
NM_002294.3
p.C153*
c.459C>A
1 paper
NM_002294.3
p.I145_P146insFs
c.435_436insAG
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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."