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.Y223*

c.669T>A

Surrounding Variants

2 papers

NM_002294.3

p.Y223insFs

c.668dupA

2 papers

NM_002294.3

p.Y223*

c.669T>G

1 paper

NM_002294.3

p.T222_Y223del2

c.664_668del6

1 paper

NM_002294.3

p.Y223delFs

c.667delA

1 paper

NM_002294.3

p.G221fs

c.661_662fs

12 papers

NM_002294.3

p.G221R

c.661G>C

13 papers

NM_002294.3

p.G221R

c.661G>A

1 paper

NM_002294.3

p.G221fs

c.661_662fs

2 papers

NM_002294.3

p.A220insFs

c.659dupC

1 paper

NM_002294.3

p.N227fs

c.679_680fs

1 paper

NM_002294.3

p.N227K

c.681T>G

1 paper

NM_002294.3

p.N227K

c.681T>A