Varaico: Literature-Extracted Genetic Variants

Gene:SPTLC2
Variant:p.N177D

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
6 papers
NM_004863.4
p.N177D
c.529A>G
Surrounding Variants
3 papers
NM_004863.4
p.N177H
c.529A>C
13 papers
NM_004863.4
p.A182P
c.544G>C
10 papers
NM_004863.4
p.R183W
c.547C>T
1 paper
NM_004863.4
p.I167V
c.499A>G
1 paper
NM_004863.4
p.G164G
c.492G>C
1 paper
NM_004863.4
p.Y199S
c.596A>C
1 paper
NM_004863.4
p.G200R
c.598G>A
1 paper
NM_004863.4
p.R207Q
c.620G>A
1 paper
NM_004863.4
p.K161Splc
c.482+176A>T
1 paper
NM_004863.4
p.K161Splc
c.482+174C>T
3 papers
NM_004863.4
p.R145S
c.435G>T
3 papers
NM_004863.4
p.R145S
c.435G>C
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