Varaico: Literature-Extracted Genetic Variants

Gene:TMEM54
Variant:p.V71_T73del0

TMEM54

30 papers

Pfam Domains

BCLPaa 18–199UCSCBeta-casein like protein

Gene Aliases

HGNC Name

transmembrane protein 54

HGNC Alias Symbols

CAC-1; BCLP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033504.4
p.V71_T73del0
c.212_217del6
Surrounding Variants
3 papers
NM_033504.4
p.A77T
c.229G>A
1 paper
NM_033504.4
p.L103F
c.307C>T
1 paper
NM_033504.4
p.A117S
c.349G>T
1 paper
NM_033504.4
p.Q123*
c.367C>T
1 paper
NM_033504.4
p.G134insFs
c.400_401insT
1 paper
NM_033504.4
p.G134fs
c.400_401fs
1 paper
NM_033504.4
p.E137_L138insFs
c.411_412insA
1 paper
NM_033504.4
p.P146L
c.437C>T
1 paper
NM_033504.4
p.D148N
c.442G>A
1 paper
NM_033504.4
p.R151H
c.452G>A
1 paper
NM_033504.4
p.L159fs
c.475_476fs
1 paper
NM_033504.4
p.L159_L164delFs
c.477_490del14
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