Varaico: Literature-Extracted Genetic Variants

Gene:SAT1
Variant:p.D93N

SAT1

53 papers

RefSeq Summary

The protein encoded by this gene belongs to the acetyltransferase family, and is a rate-limiting enzyme in the catabolic pathway of polyamine metabolism. It catalyzes the acetylation of spermidine and...

Pfam Domains

Acetyltransf_1aa 15–145UCSCAcetyltransferase (GNAT) family

Gene Aliases

HGNC Name

spermidine/spermine N1-acetyltransferase 1

HGNC Alias Symbol

SSAT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002970.4
p.D93N
c.277G>A
Surrounding Variants
1 paper
NM_002970.4
p.D93A
c.278A>C
1 paper
NM_002970.4
p.E92A
c.275A>C
1 paper
NM_002970.4
p.E92Q
c.274G>C
1 paper
NM_002970.4
p.E92*
c.274G>T
1 paper
NM_002970.4
p.E92fs
c.274_275fs
1 paper
NM_002970.4
p.F94L
c.280T>C
1 paper
NM_002970.4
p.F94L
c.282C>A
1 paper
NM_002970.4
p.F94L
c.282C>G
1 paper
NM_002970.4
p.L91insFs
c.272_273dupTT
1 paper
NM_002970.4
p.V96M
c.286G>A
1 paper
NM_002970.4
p.V96L
c.286G>C
1 paper
NM_002970.4
p.V96L
c.286G>T
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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."