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

2 papers

NM_002294.3

p.L140fs

c.418_419fs

Surrounding Variants

3 papers

NM_002294.3

p.L140delFs

c.418delG

1 paper

NM_002294.3

p.L140_L141insFs

c.420_421insG

1 paper

NM_002294.3

p.L140fs

c.418_419fs

1 paper

NM_002294.3

p.E139K

c.415G>A

1 paper

NM_002294.3

p.L141fs

c.421_422fs

1 paper

NM_002294.3

p.L141*

c.422T>A

1 paper

NM_002294.3

p.D138G

c.413A>G

1 paper

NM_002294.3

p.T136insFs

c.406dupA

2 papers

NM_002294.3

p.T136fs

c.406_407fs

2 papers

NM_002294.3

p.L135insFs

c.405dupT

1 paper

NM_002294.3

p.R144fs

c.430_431fs

1 paper

NM_002294.3

p.R144S

c.432A>T