Varaico: Literature-Extracted Genetic Variants

LAMP1

440 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 also play a role in tumor cell metastasis. ...

Pfam Domains

Lamp2-like_luminalaa 23–191UCSCLysosome-associated membrane glycoprotein 2-like, luminal domains

Lamp2-like_luminalaa 206–376UCSCLysosome-associated membrane glycoprotein 2-like, luminal domains

Lamp2_2ndaa 384–415UCSCLysosome-associated membrane glycoprotein 2, transmembrane segment

Gene Aliases

HGNC Name

lysosomal associated membrane protein 1

HGNC Alias Symbol

CD107a

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005561.4

p.G229W

c.685G>T

Surrounding Variants

1 paper

NM_005561.4

p.G229V

c.686G>T

1 paper

NM_005561.4

p.C231S

c.691T>A

1 paper

NM_005561.4

p.L233L

c.697C>T

1 paper

NM_005561.4

p.N223S

c.668A>G

1 paper

NM_005561.4

p.Y222*

c.666C>A

1 paper

NM_005561.4

p.K221T

c.662A>C

1 paper

NM_005561.4

p.D220N

c.658G>A

1 paper

NM_005561.4

p.P217P

c.651C>G

1 paper

NM_005561.4

p.L240L

c.720G>T

1 paper

NM_005561.4

p.P214P

c.642C>A

1 paper

NM_005561.4

p.P214S

c.640C>T

1 paper

NM_005561.4

p.V213_P214insT

c.637_641ins3