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.S183N

c.548G>A

Surrounding Variants

1 paper

NM_002294.3

p.V182_S183Fs

c.546_548delinsTAFs

1 paper

NM_002294.3

p.S183fs

c.547_548fs

1 paper

NM_002294.3

p.S183_T184insA

c.547_551ins3

1 paper

NM_002294.3

p.T181P

c.541A>C

1 paper

NM_002294.3

p.V173_N179del7

c.517_536del21

1 paper

NM_002294.3

p.Q178*

c.532C>T

1 paper

NM_002294.3

p.A175delFs

c.525delA

7 papers

NM_002294.3

p.Q174*

c.520C>T

3 papers

NM_002294.3

p.V173I

c.517G>A

1 paper

NM_002294.3

p.D170_L172Fs

c.510_515delinsGFs

1 paper

NM_002294.3

p.D170fs

c.508_509fs

1 paper

NM_002294.3

p.D170Y

c.508G>T