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

10 papers

NM_002294.3

p.A270insFs

c.808dupG

Surrounding Variants

2 papers

NM_002294.3

p.A270fs

c.808_809fs

1 paper

NM_002294.3

p.T269A

c.805A>G

2 papers

NM_002294.3

p.L272R

c.815T>G

2 papers

NM_002294.3

p.L272P

c.815T>C

1 paper

NM_002294.3

p.R273K

c.818G>A

6 papers

NM_002294.3

p.R266insFs

c.796_797insC

2 papers

NM_002294.3

p.R266H

c.797G>A

1 paper

NM_002294.3

p.R266fs

c.796_797fs

1 paper

NM_002294.3

p.R266C

c.796C>T

4 papers

NM_002294.3

p.C265*

c.795C>A

1 paper

NM_002294.3

p.N275H

c.823A>C

1 paper

NM_002294.3

p.A270_L274del5

c.808_821del15