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.E216K

c.646G>A

Surrounding Variants

2 papers

NM_002294.3

p.E216*

c.646G>T

2 papers

NM_002294.3

p.K215R

c.644A>G

1 paper

NM_002294.3

p.K215fs

c.643_644fs

1 paper

NM_002294.3

p.P214insFs

c.641_642insC

1 paper

NM_002294.3

p.K217insFs

c.651dupA

1 paper

NM_002294.3

p.K215_K217delFs

c.645_651del7

2 papers

NM_002294.3

p.T213I

c.638C>T

1 paper

NM_002294.3

p.P218fs

c.652_653fs

1 paper

NM_002294.3

p.P212P

c.636T>C

1 paper

NM_002294.3

p.P212delFs

c.635delG

2 papers

NM_002294.3

p.V205_P218del14

c.613_653del42

2 papers

NM_002294.3

p.A220insFs

c.659dupC