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

11 papers

NM_002294.3

p.G22Splc

c.64+1G>A

Surrounding Variants

5 papers

NM_002294.3

p.G22Splc

c.64+1G>T

1 paper

NM_002294.3

p.G22Splc

c.64+1G>C

2 papers

NM_002294.3

p.G22Splc

c.64+2T>A

5 papers

NM_002294.3

p.G22*

c.64G>T

1 paper

NM_002294.3

p.L21L

c.63G>A

1 paper

NM_002294.3

p.L21Q

c.62T>A

1 paper

NM_002294.3

p.G22Splc

c.64+4A>C

1 paper

NM_002294.3

p.G22Splc

c.64+5G>C

2 papers

NM_002294.3

p.L19R

c.56T>G

1 paper

NM_002294.3

p.L19P

c.56T>C

1 paper

NM_002294.3

p.C18*

c.54C>A

2 papers

NM_002294.3

p.S12_C18del0

c.35_52del18