Varaico: Literature-Extracted Genetic Variants

Gene:SMPDL3B
Variant:p.Y198F

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.Y198F
c.593A>T
Surrounding Variants
1 paper
NM_014474.4
p.T222T
c.666C>T
1 paper
NM_014474.4
p.K171fs
c.511_512fs
1 paper
NM_014474.4
p.L169L
c.507C>G
1 paper
NM_014474.4
p.A168T
c.502G>A
1 paper
NM_014474.4
p.N148del1
c.442_443delAAC
1 paper
NM_014474.4
p.G146delFs
c.436delG
1 paper
NM_014474.4
p.H135D
c.403C>G
1 paper
NM_014474.4
p.A130V
c.389C>T
1 paper
NM_014474.4
p.V234V
c.702C>T
1 paper
NM_014474.4
p.F242S
c.725T>C
1 paper
NM_014474.4
p.R252Q
c.755G>A
1 paper
NM_014474.4
p.E257K
c.769G>A
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