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.G326A

c.977G>C

Surrounding Variants

1 paper

NM_002294.3

p.G326R

c.976G>C

2 papers

NM_002294.3

p.G326R

c.976G>A

5 papers

NM_002294.3

p.L325fs

c.973_974fs

4 papers

NM_002294.3

p.L325delFs

c.974delA

13 papers

NM_002294.3

p.L325insFs

c.973dupC

4 papers

NM_002294.3

p.L325Fs

c.974delinsAAFs

10 papers

NM_002294.3

p.L325delFs

c.973delG

1 paper

NM_002294.3

p.S327I

c.980G>T

9 papers

NM_002294.3

p.L325fs

c.973_974fs

1 paper

NM_002294.3

p.P324fs

c.970_971fs

1 paper

NM_002294.3

p.P324_L325insFs

c.972_973insA

1 paper

NM_002294.3

p.P324L

c.971C>T