Varaico: Literature-Extracted Genetic Variants

Gene:SMPDL3B
Variant:p.A5P

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.A5P
c.13G>C
Surrounding Variants
1 paper
NM_014474.4
p.E19fs
c.55_56fs
1 paper
NM_014474.4
p.E19delFs
c.57delA
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."