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.T103insFs

c.307_308ins4

Surrounding Variants

1 paper

NM_002294.3

p.T103fs

c.307_308fs

1 paper

NM_002294.3

p.W98_N101del4

c.292_302del12

2 papers

NM_002294.3

p.T103_K104del2

c.307_311del6

1 paper

NM_002294.3

p.A100E

c.299C>A

1 paper

NM_002294.3

p.A100T

c.298G>A

1 paper

NM_002294.3

p.I99V

c.295A>G

1 paper

NM_002294.3

p.W98insFs

c.294dupG

18 papers

NM_002294.3

p.W98*

c.294G>A

1 paper

NM_002294.3

p.A106_S107insFs

c.317_320dup4

3 papers

NM_002294.3

p.S107insFs

c.320_321ins4

15 papers

NM_002294.3

p.W98*

c.293G>A

1 paper

NM_002294.3

p.T108fs

c.322_323fs