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

26 papers

NM_002294.3

p.V310I

c.928G>A

Surrounding Variants

3 papers

NM_002294.3

p.V310F

c.928G>T

1 paper

NM_002294.3

p.V310L

c.928G>C

1 paper

NM_002294.3

p.V310Splc

c.928+1G>T

2 papers

NM_002294.3

p.V310Splc

c.928+1G>A

2 papers

NM_002294.3

p.S309S

c.927C>T

2 papers

NM_002294.3

p.S309fs

c.925_926fs

1 paper

NM_002294.3

p.V310Splc

c.928+2T>C

2 papers

NM_002294.3

p.S309delFs

c.925delA

4 papers

NM_002294.3

p.V310Splc

c.928+3A>T

1 paper

NM_002294.3

p.V310Splc

c.928+3A>G

1 paper

NM_002294.3

p.V310Splc

c.928+4A>G

1 paper

NM_002294.3

p.G308R

c.922G>C