Varaico: Literature-Extracted Genetic Variants

Gene:SPTSSA
Variant:p.M1L

SPTSSA

12 papers

RefSeq Summary

Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTA is a small SPT subunit that stimulates SPT activity and confers...

Pfam Domains

SPT_ssu-likeaa 10–63UCSCSmall subunit of serine palmitoyltransferase-like

Gene Aliases

HGNC Name

serine palmitoyltransferase small subunit A

HGNC Previous Symbol

C14orf147

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138288.4
p.M1L
c.1A>T
Surrounding Variants
1 paper
NM_138288.4
p.M1L
c.1A>C
1 paper
NM_138288.4
p.A9T
c.25G>A
1 paper
NM_138288.4
p.W32S
c.95G>C
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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."