Varaico: Literature-Extracted Genetic Variants

Gene:SPTLC2
Variant:p.A351S

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.A351S
c.1051G>T
Surrounding Variants
1 paper
NM_004863.4
p.R357W
c.1069C>T
10 papers
NM_004863.4
p.V359M
c.1075G>A
1 paper
NM_004863.4
p.K336E
c.1006A>G
1 paper
NM_004863.4
p.A332S
c.994G>T
1 paper
NM_004863.4
p.T378A
c.1132A>G
1 paper
NM_004863.4
p.F381S
c.1142T>C
1 paper
NM_004863.4
p.G382R
c.1144G>C
13 papers
NM_004863.4
p.G382V
c.1145G>T
1 paper
NM_004863.4
p.G382A
c.1145G>C
1 paper
NM_004863.4
p.A383V
c.1148C>T
1 paper
NM_004863.4
p.S384A
c.1150T>G
12 papers
NM_004863.4
p.S384F
c.1151C>T
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