Varaico: Literature-Extracted Genetic Variants

Gene:SPTLC2
Variant:p.S258R

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.S258R
c.774T>A
Surrounding Variants
1 paper
NM_004863.4
p.S258R
c.774T>G
1 paper
NM_004863.4
p.S258R
c.772A>C
4 papers
NM_004863.4
p.E260K
c.778G>A
1 paper
NM_004863.4
p.N262I
c.785A>T
1 paper
NM_004863.4
p.N262N
c.786T>C
1 paper
NM_004863.4
p.C254S
c.761G>C
1 paper
NM_004863.4
p.C254R
c.760T>C
1 paper
NM_004863.4
p.C254S
c.760T>A
1 paper
NM_004863.4
p.H263R
c.788A>G
1 paper
NM_004863.4
p.S265L
c.794C>T
1 paper
NM_004863.4
p.S273*
c.818C>G
1 paper
NM_004863.4
p.S273*
c.818C>A
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