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

1–12 of 646 variants

26 papers

NM_002294.3

p.V310I

c.928G>A

21 papers

NM_002294.3

p.R293*

c.877C>T

18 papers

NM_002294.3

p.W98*

c.294G>A

15 papers

NM_002294.3

p.W98*

c.293G>A

15 papers

NM_002294.3

p.V310I

c.928G>A

13 papers

NM_002294.3

p.G221R

c.661G>A

13 papers

NM_002294.3

p.L325insFs

c.973dupC

12 papers

NM_002294.3

p.L156*

c.467T>G

12 papers

NM_002294.3

p.G221R

c.661G>C

11 papers

NM_002294.3

p.G22Splc

c.64+1G>A

10 papers

NM_002294.3

p.A270insFs

c.808dupG

10 papers

NM_002294.3

p.L325delFs

c.973delG