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

2 papers

NM_002294.3

p.N275S

c.824A>G

Surrounding Variants

1 paper

NM_002294.3

p.N275H

c.823A>C

1 paper

NM_002294.3

p.A270_L274del5

c.808_821del15

1 paper

NM_002294.3

p.S276R

c.826A>C

1 paper

NM_002294.3

p.S276R

c.828C>G

1 paper

NM_002294.3

p.S276R

c.828C>A

1 paper

NM_002294.3

p.R273K

c.818G>A

1 paper

NM_002294.3

p.T278P

c.832A>C

2 papers

NM_002294.3

p.L272R

c.815T>G

2 papers

NM_002294.3

p.L272P

c.815T>C

1 paper

NM_002294.3

p.T278ins1

c.832_833insAAT

2 papers

NM_002294.3

p.I279fs

c.835_836fs

2 papers

NM_002294.3

p.T278delFs

c.834delG