Varaico: Literature-Extracted Genetic Variants

Gene:SPTLC3

SPTLC3

42 papers

RefSeq Summary

This gene encodes a subunit of the serine palmitoyltransferase complex which catalyzes the rate-limiting step in sphingolipid biosynthesis. This subunit metabolizes lauroyl- and myristoyl-CoA and gene...

Pfam Domains

Aminotran_1_2aa 160–520UCSCAminotransferase class I and II

Gene Aliases

HGNC Name

serine palmitoyltransferase long chain base subunit 3

HGNC Previous Symbols

C20orf38; SPTLC2L

Papers
RefSeq ID
Protein change
DNA change
1–12 of 31 variants
3 papers
NM_018327.4
p.G382V
c.1145G>T
2 papers
NM_018327.4
p.R97K
c.290G>A
2 papers
NM_018327.4
p.W150R
c.448T>A
2 papers
NM_018327.4
p.W150R
c.448T>C
2 papers
NM_018327.4
p.A232T
c.694G>A
2 papers
NM_018327.4
p.T347P
c.1039A>C
1 paper
NM_018327.4
p.A2delins
c.4delinsATGT
1 paper
NM_018327.4
p.K19N
c.57A>C
1 paper
NM_018327.4
p.K19N
c.57A>T
1 paper
NM_018327.4
p.M63T
c.188T>C
1 paper
NM_018327.4
p.T66S
c.196A>T
1 paper
NM_018327.4
p.L79P
c.236T>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."