Varaico: Literature-Extracted Genetic Variants

Gene:SPTLC1
Variant:p.V144D

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
46 papers
NM_006415.4
p.V144D
c.431T>A
Surrounding Variants
1 paper
NM_006415.4
p.V144A
c.431T>C
1 paper
NM_006415.4
p.V144F
c.430G>T
1 paper
NM_006415.4
p.D143Splc
c.428-1G>T
1 paper
NM_006415.4
p.D143Splc
c.428-1G>C
1 paper
NM_006415.4
p.L146S
c.437T>C
2 papers
NM_006415.4
p.R151C
c.451C>T
4 papers
NM_006415.4
p.R151L
c.452G>T
1 paper
NM_006415.4
p.R151H
c.452G>A
1 paper
NM_006415.4
p.R151_L152del1
c.452_454delGGC
1 paper
NM_006415.4
p.A153T
c.457G>A
1 paper
NM_006415.4
p.K154T
c.461A>C
1 paper
NM_006415.4
p.M156T
c.467T>C
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