Varaico: Literature-Extracted Genetic Variants

Gene:SPTLC1
Variant:p.E400*

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.E400*
c.1198G>T
Surrounding Variants
1 paper
NM_006415.4
p.T402S
c.1204A>T
1 paper
NM_006415.4
p.T402S
c.1205C>G
1 paper
NM_006415.4
p.Q397*
c.1189C>T
1 paper
NM_006415.4
p.G403E
c.1208G>A
1 paper
NM_006415.4
p.G403G
c.1209G>A
2 papers
NM_006415.4
p.R405H
c.1214G>A
1 paper
NM_006415.4
p.F394S
c.1181T>C
1 paper
NM_006415.4
p.E406Q
c.1216G>C
2 papers
NM_006415.4
p.E406K
c.1216G>A
1 paper
NM_006415.4
p.L390L
c.1170T>C
1 paper
NM_006415.4
p.L390F
c.1168C>T
19 papers
NM_006415.4
p.G387A
c.1160G>C
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