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.R77H

c.230G>A

Surrounding Variants

1 paper

NM_005561.4

p.S78G

c.232A>G

1 paper

NM_005561.4

p.N76N

c.228C>T

1 paper

NM_005561.4

p.S78N

c.233G>A

1 paper

NM_005561.4

p.S79C

c.236C>G

1 paper

NM_005561.4

p.L75P

c.224T>C

1 paper

NM_005561.4

p.T72A

c.214A>G

1 paper

NM_005561.4

p.A71_T72insFs

c.213_214insT

1 paper

NM_005561.4

p.N84insFs

c.251dupA

1 paper

NM_005561.4

p.A71S

c.211G>T

1 paper

NM_005561.4

p.T85N

c.254C>A

1 paper

NM_005561.4

p.S69A

c.205T>G

1 paper

NM_005561.4

p.P68_S69insFs

c.204_205insC