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.D322fs

c.964_965fs

Surrounding Variants

5 papers

NM_002294.3

p.W321*

c.963G>A

1 paper

NM_002294.3

p.D322V

c.965A>T

2 papers

NM_002294.3

p.D322delFs

c.964delC

1 paper

NM_002294.3

p.D322fs

c.964_965fs

5 papers

NM_002294.3

p.W321*

c.962G>A

7 papers

NM_002294.3

p.W321R

c.961T>C

5 papers

NM_002294.3

p.W321R

c.961T>A

4 papers

NM_002294.3

p.D322insFs

c.966dupT

3 papers

NM_002294.3

p.A323fs

c.967_968fs

3 papers

NM_002294.3

p.Y320C

c.959A>G

3 papers

NM_002294.3

p.Y320_W321ins4

c.958_962ins12

1 paper

NM_002294.3

p.Y320N

c.958T>A