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.N255fs

c.763_764fs

Surrounding Variants

2 papers

NM_002294.3

p.N255insFs

c.764_765insGA

1 paper

NM_002294.3

p.V248_I254delFs

c.742_760del19

2 papers

NM_002294.3

p.N255_P256delins

c.763_768delinsTGAAGT

1 paper

NM_002294.3

p.N257fs

c.769_770fs

1 paper

NM_002294.3

p.P256delFs

c.768delG

1 paper

NM_002294.3

p.I252fs

c.754_755fs

2 papers

NM_002294.3

p.N257S

c.770A>G

1 paper

NM_002294.3

p.N257fs

c.769_770fs

4 papers

NM_002294.3

p.I252S

c.755T>G

1 paper

NM_002294.3

p.I252T

c.755T>C

1 paper

NM_002294.3

p.V251insFs

c.753dupT

1 paper

NM_002294.3

p.V251fs

c.751_752fs