Varaico: Literature-Extracted Genetic Variants

Gene:SPTLC1
Variant:p.F40L

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
3 papers
NM_006415.4
p.F40L
c.120C>G
Surrounding Variants
3 papers
NM_006415.4
p.F40L
c.120C>A
3 papers
NM_006415.4
p.F40L
c.118T>C
17 papers
NM_006415.4
p.L39del1
c.115_116delAAG
1 paper
NM_006415.4
p.K42E
c.124A>G
1 paper
NM_006415.4
p.L31_S41insFs
c.93_123dup31
1 paper
NM_006415.4
p.F40_S41del2
c.118_122del6
9 papers
NM_006415.4
p.L38R
c.113T>G
4 papers
NM_006415.4
p.L38P
c.113T>C
1 paper
NM_006415.4
p.T43T
c.129T>G
1 paper
NM_006415.4
p.K45E
c.133A>G
1 paper
NM_006415.4
p.Q47*
c.139C>T
1 paper
NM_006415.4
p.Q47fs
c.139_140fs
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