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.V339L

c.1015G>T

Surrounding Variants

1 paper

NM_002294.3

p.V339L

c.1015G>C

1 paper

NM_002294.3

p.S338*

c.1013C>G

1 paper

NM_002294.3

p.S338*

c.1013C>A

3 papers

NM_002294.3

p.V337delFs

c.1009_1010delAC

1 paper

NM_002294.3

p.V337F

c.1009G>T

1 paper

NM_002294.3

p.S340delFs

c.1020delA

1 paper

NM_002294.3

p.T336S

c.1007C>G

1 paper

NM_002294.3

p.G341fs

c.1021_1022fs

1 paper

NM_002294.3

p.T336S

c.1006A>T

1 paper

NM_002294.3

p.A342fs

c.1024_1025fs

1 paper

NM_002294.3

p.A342delFs

c.1025delG

1 paper

NM_002294.3

p.Q335*

c.1003C>T