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.Q166_W169del0

c.498_506del9

Surrounding Variants

3 papers

NM_002294.3

p.W169*

c.507G>A

1 paper

NM_002294.3

p.D170fs

c.508_509fs

1 paper

NM_002294.3

p.D170Y

c.508G>T

2 papers

NM_002294.3

p.W169*

c.506G>A

1 paper

NM_002294.3

p.D170_L172Fs

c.510_515delinsGFs

3 papers

NM_002294.3

p.V173I

c.517G>A

7 papers

NM_002294.3

p.Q174*

c.520C>T

1 paper

NM_002294.3

p.D163fs

c.487_488fs

1 paper

NM_002294.3

p.D163delFs

c.487delC

1 paper

NM_002294.3

p.N162insFs

c.486dupT

1 paper

NM_002294.3

p.A175delFs

c.525delA

1 paper

NM_002294.3

p.Q178*

c.532C>T