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.S115fs

c.343_344fs

Surrounding Variants

1 paper

NM_002294.3

p.V114A

c.341T>C

1 paper

NM_002294.3

p.V114fs

c.340_341fs

1 paper

NM_002294.3

p.S113N

c.338G>A

1 paper

NM_002294.3

p.S113G

c.337A>G

1 paper

NM_002294.3

p.D112N

c.334G>A

1 paper

NM_002294.3

p.I111V

c.331A>G

1 paper

NM_002294.3

p.S110*

c.329C>G

1 paper

NM_002294.3

p.S110*

c.329C>A

1 paper

NM_002294.3

p.Y109fs

c.325_326fs

3 papers

NM_002294.3

p.Y109*

c.327T>G

4 papers

NM_002294.3

p.Y109*

c.327T>A

2 papers

NM_002294.3

p.Y109delFs

c.325delA