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

5 papers

NM_002294.3

p.Q353*

c.1057C>T

Surrounding Variants

2 papers

NM_002294.3

p.Q353P

c.1058A>C

5 papers

NM_002294.3

p.R351delFs

c.1052delC

4 papers

NM_002294.3

p.V352fs

c.1054_1055fs

1 paper

NM_002294.3

p.V352L

c.1054G>C

1 paper

NM_002294.3

p.V352I

c.1054G>A

1 paper

NM_002294.3

p.F355S

c.1064T>C

1 paper

NM_002294.3

p.F355L

c.1065C>A

1 paper

NM_002294.3

p.L350V

c.1048C>G

1 paper

NM_002294.3

p.N356S

c.1067A>G

1 paper

NM_002294.3

p.V357M

c.1069G>A

1 paper

NM_002294.3

p.F348fs

c.1042_1043fs

2 papers

NM_002294.3

p.T347delFs

c.1041delG