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.V251L

c.751G>C

Surrounding Variants

1 paper

NM_002294.3

p.V251fs

c.751_752fs

1 paper

NM_002294.3

p.S250delFs

c.750delT

7 papers

NM_002294.3

p.S250*

c.749C>G

8 papers

NM_002294.3

p.S250*

c.749C>A

1 paper

NM_002294.3

p.V251insFs

c.753dupT

4 papers

NM_002294.3

p.I252S

c.755T>G

1 paper

NM_002294.3

p.I252T

c.755T>C

1 paper

NM_002294.3

p.I252fs

c.754_755fs

1 paper

NM_002294.3

p.A249fs

c.745_746fs

1 paper

NM_002294.3

p.V248delFs

c.744delA

1 paper

NM_002294.3

p.V248fs

c.742_743fs

1 paper

NM_002294.3

p.V248fs

c.742_743fs