Varaico: Literature-Extracted Genetic Variants

Gene:LAMP1
Variant:p.M1I

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.M1I
c.3G>C
Surrounding Variants
2 papers
NM_005561.4
p.M1I
c.3G>A
2 papers
NM_005561.4
p.M1I
c.3G>T
1 paper
NM_005561.4
p.M1L
c.1A>C
1 paper
NM_005561.4
p.M1L
c.1A>T
1 paper
NM_005561.4
p.A2V
c.5C>T
1 paper
NM_005561.4
p.A3T
c.7G>A
1 paper
NM_005561.4
p.P4delFs
c.11delC
1 paper
NM_005561.4
p.A3A
c.9C>T
1 paper
NM_005561.4
p.P4S
c.10C>T
1 paper
NM_005561.4
p.P4P
c.12C>T
1 paper
NM_005561.4
p.S6N
c.17G>A
1 paper
NM_005561.4
p.S6I
c.17G>T
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