Varaico: Literature-Extracted Genetic Variants

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.S195*

c.584C>G

Surrounding Variants

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

1 paper

NM_002294.3

p.S195fs

c.583_584fs

7 papers

NM_002294.3

p.T196S

c.586A>T

1 paper

NM_002294.3

p.T196fs

c.586_587fs

1 paper

NM_002294.3

p.T196I

c.587C>T

1 paper

NM_002294.3

p.T194insFs

c.580dupA

1 paper

NM_002294.3

p.K193_T196delFs

c.579_586del8

1 paper

NM_002294.3

p.T194fs

c.580_581fs

1 paper

NM_002294.3

p.T196fs

c.586_587fs

1 paper

NM_002294.3

p.S195_T196insFs

c.584_588dup5