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

9 papers

NM_002294.3

p.Q240*

c.718C>T

Surrounding Variants

1 paper

NM_002294.3

p.L239L

c.717G>A

4 papers

NM_002294.3

p.L239delFs

c.716delA

1 paper

NM_002294.3

p.T236_Q240Fs

c.706_719delinsGFs

1 paper

NM_002294.3

p.L239P

c.716T>C

1 paper

NM_002294.3

p.Q240Q

c.720G>A

1 paper

NM_002294.3

p.T236_Q240delFs

c.706_719del14

2 papers

NM_002294.3

p.L239fs

c.715_716fs

1 paper

NM_002294.3

p.G238insFs

c.714dupG

1 paper

NM_002294.3

p.Q240_L241ins0

c.719_721dupAGC

1 paper

NM_002294.3

p.G238E

c.713G>A

2 papers

NM_002294.3

p.G238R

c.712G>A

1 paper

NM_002294.3

p.N242fs

c.724_725fs