Varaico: Literature-Extracted Genetic Variants

Gene:SPTLC2

SPTLC2

125 papers

RefSeq Summary

This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It ca...

Pfam Domains

Aminotran_1_2aa 168–528UCSCAminotransferase class I and II

Gene Aliases

HGNC Name

serine palmitoyltransferase long chain base subunit 2

HGNC Alias Symbols

KIAA0526; LCB2; LCB2A; hLCB2a

Papers
RefSeq ID
Protein change
DNA change
1–12 of 108 variants
13 papers
NM_004863.4
p.A182P
c.544G>C
13 papers
NM_004863.4
p.G382V
c.1145G>T
12 papers
NM_004863.4
p.S384F
c.1151C>T
10 papers
NM_004863.4
p.R183W
c.547C>T
10 papers
NM_004863.4
p.V359M
c.1075G>A
10 papers
NM_004863.4
p.I504F
c.1510A>T
6 papers
NM_004863.4
p.N177D
c.529A>G
4 papers
NM_004863.4
p.E260K
c.778G>A
4 papers
NM_004863.4
p.G435V
c.1304G>T
3 papers
NM_004863.4
p.T74T
c.222G>A
3 papers
NM_004863.4
p.R145S
c.435G>T
3 papers
NM_004863.4
p.R145S
c.435G>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."