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.F284delFs

c.851_852delAA

Surrounding Variants

1 paper

NM_002294.3

p.F284fs

c.850_851fs

1 paper

NM_002294.3

p.F286delFs

c.858delA

1 paper

NM_002294.3

p.L282R

c.845T>G

3 papers

NM_002294.3

p.Y281*

c.843T>G

2 papers

NM_002294.3

p.Y281*

c.843T>A

4 papers

NM_002294.3

p.V288V

c.864G>A

3 papers

NM_002294.3

p.Y281C

c.842A>G

5 papers

NM_002294.3

p.V288_K289Splc

c.864+1G>T

4 papers

NM_002294.3

p.V288_K289Splc

c.864+1G>A

3 papers

NM_002294.3

p.V288_K289Splc

c.864+2T>C

1 paper

NM_002294.3

p.K280N

c.840G>T

1 paper

NM_002294.3

p.K280fs

c.838_839fs