Varaico: Literature-Extracted Genetic Variants

Gene:SPTLC3
Variant:p.L79P

SPTLC3

42 papers

RefSeq Summary

This gene encodes a subunit of the serine palmitoyltransferase complex which catalyzes the rate-limiting step in sphingolipid biosynthesis. This subunit metabolizes lauroyl- and myristoyl-CoA and gene...

Pfam Domains

Aminotran_1_2aa 160–520UCSCAminotransferase class I and II

Gene Aliases

HGNC Name

serine palmitoyltransferase long chain base subunit 3

HGNC Previous Symbols

C20orf38; SPTLC2L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018327.4
p.L79P
c.236T>C
Surrounding Variants
1 paper
NM_018327.4
p.N92fs
c.274_275fs
1 paper
NM_018327.4
p.T66S
c.196A>T
1 paper
NM_018327.4
p.M63T
c.188T>C
2 papers
NM_018327.4
p.R97K
c.290G>A
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