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.P218fs

c.652_653fs

Surrounding Variants

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.V205_P218del14

c.613_653del42

2 papers

NM_002294.3

p.A220insFs

c.659dupC

12 papers

NM_002294.3

p.G221R

c.661G>C

13 papers

NM_002294.3

p.G221R

c.661G>A

1 paper

NM_002294.3

p.G221fs

c.661_662fs

2 papers

NM_002294.3

p.E216*

c.646G>T

1 paper

NM_002294.3

p.E216K

c.646G>A

1 paper

NM_002294.3

p.G221fs

c.661_662fs

2 papers

NM_002294.3

p.K215R

c.644A>G

1 paper

NM_002294.3

p.K215fs

c.643_644fs