Varaico: Literature-Extracted Genetic Variants

Gene:LAMP2
Variant:p.K191delFs

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
5 papers
NM_002294.3
p.K191delFs
c.573delT
Surrounding Variants
1 paper
NM_002294.3
p.D192fs
c.574_575fs
1 paper
NM_002294.3
p.D190_K191del2
c.568_572del6
1 paper
NM_002294.3
p.K193fs
c.577_578fs
1 paper
NM_002294.3
p.T194fs
c.580_581fs
1 paper
NM_002294.3
p.C189fs
c.565_566fs
1 paper
NM_002294.3
p.T194insFs
c.580dupA
1 paper
NM_002294.3
p.C189delFs
c.565delA
1 paper
NM_002294.3
p.S195fs
c.583_584fs
1 paper
NM_002294.3
p.S195*
c.584C>G
2 papers
NM_002294.3
p.S195insFs
c.584_585insGC
1 paper
NM_002294.3
p.S195*
c.584C>A
1 paper
NM_002294.3
p.S195delFs
c.583delA
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."