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.T347S

c.1040C>G

Surrounding Variants

1 paper

NM_002294.3

p.T347S

c.1039A>T

1 paper

NM_002294.3

p.N346delFs

c.1038delA

1 paper

NM_002294.3

p.N346fs

c.1036_1037fs

2 papers

NM_002294.3

p.T347delFs

c.1041delG

2 papers

NM_002294.3

p.N346delFs

c.1037delT

1 paper

NM_002294.3

p.F348fs

c.1042_1043fs

1 paper

NM_002294.3

p.I345delFs

c.1033_1034delAT

1 paper

NM_002294.3

p.L350V

c.1048C>G

1 paper

NM_002294.3

p.Q344E

c.1030C>G

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