Varaico: Literature-Extracted Genetic Variants

Gene:LAMP2
Variant:p.D163delFs

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.D163delFs
c.487delC
Surrounding Variants
1 paper
NM_002294.3
p.D163fs
c.487_488fs
1 paper
NM_002294.3
p.N162insFs
c.486dupT
2 papers
NM_002294.3
p.K161R
c.482A>G
3 papers
NM_002294.3
p.T158A
c.472A>G
2 papers
NM_002294.3
p.W169*
c.506G>A
5 papers
NM_002294.3
p.S157*
c.470C>G
3 papers
NM_002294.3
p.S157*
c.470C>A
3 papers
NM_002294.3
p.W169*
c.507G>A
1 paper
NM_002294.3
p.Q166_W169del0
c.498_506del9
1 paper
NM_002294.3
p.D170fs
c.508_509fs
1 paper
NM_002294.3
p.D170Y
c.508G>T
12 papers
NM_002294.3
p.L156*
c.467T>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."