Varaico: Literature-Extracted Genetic Variants

Gene:SMPDL3B
Variant:p.A56A

SMPDL3B

48 papers

Pfam Domains

Metallophosaa 21–281UCSCCalcineurin-like phosphoesterase
ASMase_Caa 292–434UCSCAcid sphingomyelin phosphodiesterase C-terminal region

Gene Aliases

HGNC Name

sphingomyelin phosphodiesterase acid like 3B

HGNC Alias Symbol

ASML3B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014474.4
p.A56A
c.168A>T
Surrounding Variants
1 paper
NM_014474.4
p.S50delFs
c.148delT
1 paper
NM_014474.4
p.A48D
c.143C>A
1 paper
NM_014474.4
p.C45Y
c.134G>A
1 paper
NM_014474.4
p.S74S
c.222C>A
1 paper
NM_014474.4
p.D28D
c.84C>T
1 paper
NM_014474.4
p.G21Splc
c.62-1G>A
1 paper
NM_014474.4
p.H97Y
c.289C>T
1 paper
NM_014474.4
p.V108I
c.322G>A
1 paper
NM_014474.4
p.A130V
c.389C>T
1 paper
NM_014474.4
p.H135D
c.403C>G
1 paper
NM_014474.4
p.G146delFs
c.436delG
1 paper
NM_014474.4
p.N148del1
c.442_443delAAC
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