Varaico: Literature-Extracted Genetic Variants

Gene:SPTLC2
Variant:p.F118L

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.F118L
c.352T>C
Surrounding Variants
1 paper
NM_004863.4
p.N120S
c.359A>G
1 paper
NM_004863.4
p.V112L
c.334G>T
1 paper
NM_004863.4
p.Y127C
c.380A>G
1 paper
NM_004863.4
p.R129R
c.387G>A
1 paper
NM_004863.4
p.R136Q
c.407G>A
1 paper
NM_004863.4
p.C139R
c.415T>C
1 paper
NM_004863.4
p.V141M
c.421G>A
2 papers
NM_004863.4
p.G143A
c.428G>C
1 paper
NM_004863.4
p.A144T
c.430G>A
1 paper
NM_004863.4
p.A144D
c.431C>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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