Varaico: Literature-Extracted Genetic Variants

Gene:SPTLC2
Variant:p.I504F

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
10 papers
NM_004863.4
p.I504F
c.1510A>T
Surrounding Variants
1 paper
NM_004863.4
p.E505K
c.1513G>A
1 paper
NM_004863.4
p.E505D
c.1515G>T
1 paper
NM_004863.4
p.E505D
c.1515G>C
1 paper
NM_004863.4
p.V494A
c.1481T>C
1 paper
NM_004863.4
p.G492C
c.1474G>T
2 papers
NM_004863.4
p.I491F
c.1471A>T
1 paper
NM_004863.4
p.I491L
c.1471A>C
1 paper
NM_004863.4
p.R484Q
c.1451G>A
1 paper
NM_004863.4
p.R450K
c.1349G>A
1 paper
NM_004863.4
p.A443P
c.1327G>C
1 paper
NM_004863.4
p.C438delFs
c.1313delC
1 paper
NM_004863.4
p.K436delFs
c.1307_1308delTT
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