Varaico: Literature-Extracted Genetic Variants

Gene:LAMP1
Variant:p.K61_N62Splc

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
3 papers
NM_005561.4
p.K61_N62Splc
c.183+1G>A
Surrounding Variants
1 paper
NM_005561.4
p.P60L
c.179C>T
3 papers
NM_005561.4
p.G59S
c.175G>A
1 paper
NM_005561.4
p.K57N
c.171G>C
1 paper
NM_005561.4
p.T56I
c.167C>T
1 paper
NM_005561.4
p.D55V
c.164A>T
1 paper
NM_005561.4
p.Y54C
c.161A>G
1 paper
NM_005561.4
p.V52E
c.155T>A
1 paper
NM_005561.4
p.V52M
c.154G>A
1 paper
NM_005561.4
p.V52ins2
c.154_155ins6
1 paper
NM_005561.4
p.F50C
c.149T>G
1 paper
NM_005561.4
p.S47A
c.139T>G
1 paper
NM_005561.4
p.N45K
c.135C>G
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