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

3 papers

NM_002294.3

p.Y74*

c.222T>G

Surrounding Variants

3 papers

NM_002294.3

p.Y74*

c.222T>A

1 paper

NM_002294.3

p.Y74C

c.221A>G

2 papers

NM_002294.3

p.Y74_N75delFs

c.222_223delTA

1 paper

NM_002294.3

p.N75K

c.225T>A

1 paper

NM_002294.3

p.T73fs

c.217_218fs

2 papers

NM_002294.3

p.H69_T73delFs

c.205_218del14

1 paper

NM_002294.3

p.T73insFs

c.217dupA

1 paper

NM_002294.3

p.V72M

c.214G>A

1 paper

NM_002294.3

p.C79fs

c.235_236fs

1 paper

NM_002294.3

p.H69fs

c.205_206fs

1 paper

NM_002294.3

p.H69insFs

c.206dupA

1 paper

NM_002294.3

p.G80_D81insA

c.238_242ins3