Varaico: Literature-Extracted Genetic Variants

Gene:SPTLC2
Variant:p.K109R

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
Selected Variant
1 paper
NM_004863.4
p.K109R
c.326A>G
Surrounding Variants
1 paper
NM_004863.4
p.H101R
c.302A>G
1 paper
NM_004863.4
p.H100P
c.299A>C
3 papers
NM_004863.4
p.T74T
c.222G>A
1 paper
NM_004863.4
p.A71V
c.212C>T
2 papers
NM_004863.4
p.M68R
c.203T>G
1 paper
NM_004863.4
p.P67L
c.200C>T
1 paper
NM_004863.4
p.T66R
c.197C>G
1 paper
NM_004863.4
p.Q50*
c.148C>T
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."