Varaico: Literature-Extracted Genetic Variants

Gene:SPTLC1
Variant:p.A348S

SPTLC1

231 papers

RefSeq Summary

This gene encodes a member of the class-II pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is the long chain base subunit 1 of serine palmitoyltransferase. Serine palmitoylt...

Pfam Domains

Aminotran_1_2aa 98–464UCSCAminotransferase class I and II

Gene Aliases

HGNC Name

serine palmitoyltransferase long chain base subunit 1

HGNC Previous Symbol

HSN1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006415.4
p.A348S
c.1042G>T
Surrounding Variants
1 paper
NM_006415.4
p.A346V
c.1037C>T
1 paper
NM_006415.4
p.L345S
c.1034T>C
2 papers
NM_006415.4
p.L344delFs
c.1031delA
1 paper
NM_006415.4
p.E351G
c.1052A>G
1 paper
NM_006415.4
p.P343_L344delFs
c.1029_1030delGG
2 papers
NM_006415.4
p.A352S
c.1054G>T
2 papers
NM_006415.4
p.L344fs
c.1030_1031fs
1 paper
NM_006415.4
p.L344L
c.1030C>T
14 papers
NM_006415.4
p.A352V
c.1055C>T
1 paper
NM_006415.4
p.P342Fs
c.1025delinsTCGTTACCFs
1 paper
NM_006415.4
p.P342fs
c.1024_1025fs
1 paper
NM_006415.4
p.N354D
c.1060A>G
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