Varaico: Literature-Extracted Genetic Variants

Gene:SPTLC1

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
1–12 of 246 variants
85 papers
NM_006415.4
p.C133W
c.399T>G
60 papers
NM_006415.4
p.C133Y
c.398G>A
46 papers
NM_006415.4
p.V144D
c.431T>A
37 papers
NM_006415.4
p.S331F
c.992C>T
32 papers
NM_006415.4
p.S331Y
c.992C>A
19 papers
NM_006415.4
p.G387A
c.1160G>C
17 papers
NM_006415.4
p.A20S
c.58G>T
17 papers
NM_006415.4
p.Y23F
c.68A>T
17 papers
NM_006415.4
p.L39del1
c.115_116delAAG
14 papers
NM_006415.4
p.A352V
c.1055C>T
11 papers
NM_006415.4
p.C133R
c.397T>C
9 papers
NM_006415.4
p.L38R
c.113T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."