Varaico: Literature-Extracted Genetic Variants

Gene:SPTLC1
Variant:p.Y23F

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
17 papers
NM_006415.4
p.Y23F
c.68A>T
Surrounding Variants
1 paper
NM_006415.4
p.Y23C
c.68A>G
1 paper
NM_006415.4
p.H24Y
c.70C>T
1 paper
NM_006415.4
p.H24R
c.71A>G
1 paper
NM_006415.4
p.A20fs
c.58_59fs
17 papers
NM_006415.4
p.A20S
c.58G>T
2 papers
NM_006415.4
p.A20T
c.58G>A
1 paper
NM_006415.4
p.A20_G29delFs
c.58_85del28
1 paper
NM_006415.4
p.I32I
c.96C>T
9 papers
NM_006415.4
p.L38R
c.113T>G
4 papers
NM_006415.4
p.L38P
c.113T>C
3 papers
NM_006415.4
p.F40L
c.118T>C
17 papers
NM_006415.4
p.L39del1
c.115_116delAAG
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