Varaico: Literature-Extracted Genetic Variants

Gene:SPTLC1
Variant:p.K45E

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.K45E
c.133A>G
Surrounding Variants
1 paper
NM_006415.4
p.T43T
c.129T>G
1 paper
NM_006415.4
p.Q47*
c.139C>T
1 paper
NM_006415.4
p.Q47fs
c.139_140fs
1 paper
NM_006415.4
p.Q47delFs
c.139delG
1 paper
NM_006415.4
p.E48K
c.142G>A
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
1 paper
NM_006415.4
p.E48E
c.144A>G
3 papers
NM_006415.4
p.F40L
c.120C>G
3 papers
NM_006415.4
p.F40L
c.120C>A
3 papers
NM_006415.4
p.F40L
c.118T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."