Varaico: Literature-Extracted Genetic Variants

Gene:LAMP1
Variant:p.M116L

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
2 papers
NM_005561.4
p.M116L
c.346A>C
Surrounding Variants
2 papers
NM_005561.4
p.M116L
c.346A>T
1 paper
NM_005561.4
p.L115R
c.344T>G
1 paper
NM_005561.4
p.L115F
c.343C>T
1 paper
NM_005561.4
p.Q114L
c.341A>T
1 paper
NM_005561.4
p.A108V
c.323C>T
1 paper
NM_005561.4
p.T125P
c.373A>C
1 paper
NM_005561.4
p.T125K
c.374C>A
1 paper
NM_005561.4
p.T105M
c.314C>T
1 paper
NM_005561.4
p.T105S
c.313A>T
1 paper
NM_005561.4
p.L127H
c.380T>A
1 paper
NM_005561.4
p.N103K
c.309T>A
1 paper
NM_005561.4
p.A131V
c.392C>T
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