Varaico: Literature-Extracted Genetic Variants

Gene:SMPDL3A
Variant:p.I264S

SMPDL3A

25 papers

Pfam Domains

Metallophosaa 38–297UCSCCalcineurin-like phosphoesterase
Metallophosaa 38–297UCSCCalcineurin-like phosphoesterase
ASMase_Caa 308–450UCSCAcid sphingomyelin phosphodiesterase C-terminal region

Gene Aliases

HGNC Name

sphingomyelin phosphodiesterase acid like 3A

HGNC Alias Symbols

FLJ20177; ASM3A; ASML3a; yR36GH4.1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006714.5
p.I264S
c.791T>G
Surrounding Variants
1 paper
NM_006714.5
p.A251T
c.751G>A
1 paper
NM_006714.5
p.K246_V247Splc
c.739-2A>G
1 paper
NM_006714.5
p.H295R
c.884A>G
2 papers
NM_006714.5
p.E234D
c.702A>C
2 papers
NM_006714.5
p.E234D
c.702A>T
1 paper
NM_006714.5
p.N173Y
c.517A>T
4 papers
NM_006714.5
p.P161S
c.481C>T
1 paper
NM_006714.5
p.S387N
c.1160G>A
1 paper
NM_006714.5
p.S416C
c.1246A>T
1 paper
NM_006714.5
p.Q157_D158Splc
c.471+1G>T
1 paper
NM_006714.5
p.W155C
c.465G>C
1 paper
NM_006714.5
p.W155C
c.465G>T
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