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.L296R

c.887T>G

Surrounding Variants

1 paper

NM_002294.3

p.L296P

c.887T>C

1 paper

NM_002294.3

p.Y295fs

c.883_884fs

6 papers

NM_002294.3

p.Y295insFs

c.883_884insT

1 paper

NM_002294.3

p.Y295fs

c.883_884fs

1 paper

NM_002294.3

p.K297N

c.891G>T

1 paper

NM_002294.3

p.E298*

c.892G>T

1 paper

NM_002294.3

p.R293Q

c.878G>A

21 papers

NM_002294.3

p.R293*

c.877C>T

2 papers

NM_002294.3

p.N292_V299del0

c.874_897del24

1 paper

NM_002294.3

p.E291K

c.871G>A

2 papers

NM_002294.3

p.N290H

c.868A>C

1 paper

NM_002294.3

p.M303V

c.907A>G