Varaico: Literature-Extracted Genetic Variants

Gene:LAMP2
Variant:p.I88fs

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
2 papers
NM_002294.3
p.I88fs
c.262_263fs
Surrounding Variants
1 paper
NM_002294.3
p.I88insFs
c.262dupA
1 paper
NM_002294.3
p.I88insFs
c.264dupA
5 papers
NM_002294.3
p.P86delFs
c.257_258delGG
1 paper
NM_002294.3
p.P86P
c.258C>A
1 paper
NM_002294.3
p.A89fs
c.265_266fs
1 paper
NM_002294.3
p.V90L
c.268G>T
1 paper
NM_002294.3
p.P86fs
c.256_257fs
1 paper
NM_002294.3
p.V90E
c.269T>A
2 papers
NM_002294.3
p.Q91fs
c.271_272fs
1 paper
NM_002294.3
p.Q91delFs
c.271delG
1 paper
NM_002294.3
p.F92Y
c.275T>A
2 papers
NM_002294.3
p.V90_F92delFs
c.270_274del5
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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."