Varaico: Literature-Extracted Genetic Variants

Gene:LAMP2
Variant:p.Y109delFs

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.Y109delFs
c.325delA
Surrounding Variants
1 paper
NM_002294.3
p.Y109fs
c.325_326fs
3 papers
NM_002294.3
p.Y109*
c.327T>G
4 papers
NM_002294.3
p.Y109*
c.327T>A
1 paper
NM_002294.3
p.Y109fs
c.325_326fs
1 paper
NM_002294.3
p.S110*
c.329C>G
1 paper
NM_002294.3
p.S110*
c.329C>A
1 paper
NM_002294.3
p.T108fs
c.322_323fs
1 paper
NM_002294.3
p.A106_S107insFs
c.317_320dup4
3 papers
NM_002294.3
p.S107insFs
c.320_321ins4
1 paper
NM_002294.3
p.I111V
c.331A>G
1 paper
NM_002294.3
p.D112N
c.334G>A
1 paper
NM_002294.3
p.S113G
c.337A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."