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.I145_P146insFs

c.435_436insAG

Surrounding Variants

1 paper

NM_002294.3

p.R144S

c.432A>T

1 paper

NM_002294.3

p.R144delFs

c.431delC

5 papers

NM_002294.3

p.L147*

c.440T>A

1 paper

NM_002294.3

p.R144fs

c.430_431fs

1 paper

NM_002294.3

p.P146_L147insFs

c.436_440dup5

1 paper

NM_002294.3

p.L147fs

c.439_440fs

1 paper

NM_002294.3

p.N148_D149insFs

c.444_445insT

2 papers

NM_002294.3

p.D149fs

c.445_446fs

1 paper

NM_002294.3

p.L141*

c.422T>A

1 paper

NM_002294.3

p.L150H

c.449T>A

1 paper

NM_002294.3

p.L141fs

c.421_422fs

1 paper

NM_002294.3

p.L140_L141insFs

c.420_421insG