Varaico: Literature-Extracted Genetic Variants

Gene:LAMP5

LAMP5

18 papers

Pfam Domains

Lamp2-like_luminalaa 36–226UCSCLysosome-associated membrane glycoprotein 2-like, luminal domains

Gene Aliases

HGNC Name

lysosomal associated membrane protein family member 5

HGNC Previous Symbol

C20orf103

Papers
RefSeq ID
Protein change
DNA change
1–12 of 15 variants
1 paper
NM_012261.4
p.Q26R
c.77A>G
1 paper
NM_012261.4
p.M28T
c.83T>C
1 paper
NM_012261.4
p.Q103E
c.307C>G
1 paper
NM_012261.4
p.D112Y
c.334G>T
1 paper
NM_012261.4
p.R137S
c.411G>C
1 paper
NM_012261.4
p.R137S
c.411G>T
1 paper
NM_012261.4
p.K161K
c.483G>A
1 paper
NM_012261.4
p.S189L
c.566C>T
1 paper
NM_012261.4
p.T198M
c.593C>T
1 paper
NM_012261.4
p.T200_V206delFs
c.599_617del19
1 paper
NM_012261.4
p.A205A
c.615G>A
1 paper
NM_012261.4
p.V251A
c.752T>C
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