Varaico: Literature-Extracted Genetic Variants

Gene:LAMP1
Variant:p.P68_S69insFs

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.P68_S69insFs
c.204_205insC
Surrounding Variants
1 paper
NM_005561.4
p.S69A
c.205T>G
1 paper
NM_005561.4
p.P68insFs
c.203_204insC
1 paper
NM_005561.4
p.P68delFs
c.203delC
1 paper
NM_005561.4
p.A71S
c.211G>T
1 paper
NM_005561.4
p.D66N
c.196G>A
1 paper
NM_005561.4
p.D66Y
c.196G>T
1 paper
NM_005561.4
p.A71_T72insFs
c.213_214insT
1 paper
NM_005561.4
p.T72A
c.214A>G
1 paper
NM_005561.4
p.T64S
c.190A>T
1 paper
NM_005561.4
p.L75P
c.224T>C
1 paper
NM_005561.4
p.N76N
c.228C>T
1 paper
NM_005561.4
p.R77H
c.230G>A
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