Varaico: Literature-Extracted Genetic Variants

Gene:SPTLC1
Variant:p.Q333R

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.Q333R
c.998A>G
Surrounding Variants
1 paper
NM_006415.4
p.Q333P
c.998A>C
1 paper
NM_006415.4
p.G332C
c.994G>T
1 paper
NM_006415.4
p.G334G
c.1002A>T
37 papers
NM_006415.4
p.S331F
c.992C>T
32 papers
NM_006415.4
p.S331Y
c.992C>A
1 paper
NM_006415.4
p.S331P
c.991T>C
2 papers
NM_006415.4
p.S331T
c.991T>A
1 paper
NM_006415.4
p.R329Q
c.986G>A
1 paper
NM_006415.4
p.R329*
c.985C>T
1 paper
NM_006415.4
p.S338A
c.1012T>G
3 papers
NM_006415.4
p.A339T
c.1015G>A
1 paper
NM_006415.4
p.A339V
c.1016C>T
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