Varaico: Literature-Extracted Genetic Variants

Gene:SMPDL3A
Variant:p.A36del1

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.A36del1
c.106_108delGCG
Surrounding Variants
1 paper
NM_006714.5
p.H16Y
c.46C>T
1 paper
NM_006714.5
p.W15*
c.44G>A
1 paper
NM_006714.5
p.L7L
c.21C>G
1 paper
NM_006714.5
p.Q39_W41delins
c.116_122delinsC
1 paper
NM_006714.5
p.W41_L46del0
c.121_138del18
1 paper
NM_006714.5
p.W41_H53del0
c.122_157del36
1 paper
NM_006714.5
p.W41_D45del0
c.123_134del12
1 paper
NM_006714.5
p.V43_D49del0
c.128_145del18
1 paper
NM_006714.5
p.V43_T44del1
c.129_131delGAC
1 paper
NM_006714.5
p.L46_T51del0
c.138_152del15
1 paper
NM_006714.5
p.T59R
c.176C>G
2 papers
NM_006714.5
p.S65F
c.194C>T
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