Varaico: Literature-Extracted Genetic Variants

Gene:SPTLC1
Variant:p.R136K

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.R136K
c.407G>A
Surrounding Variants
1 paper
NM_006415.4
p.P135L
c.404C>T
1 paper
NM_006415.4
p.G134G
c.402A>T
85 papers
NM_006415.4
p.C133W
c.399T>G
4 papers
NM_006415.4
p.C133F
c.398G>T
60 papers
NM_006415.4
p.C133Y
c.398G>A
11 papers
NM_006415.4
p.C133R
c.397T>C
1 paper
NM_006415.4
p.K127M
c.380A>T
1 paper
NM_006415.4
p.K127R
c.380A>G
1 paper
NM_006415.4
p.K126N
c.378G>T
1 paper
NM_006415.4
p.K126N
c.378G>C
1 paper
NM_006415.4
p.K126K
c.378G>A
1 paper
NM_006415.4
p.K126T
c.377A>C
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