Varaico: Literature-Extracted Genetic Variants

Gene:SAT1

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
1–12 of 114 variants
4 papers
NM_002970.4
p.E152K
c.454G>A
3 papers
NM_002970.4
p.D40Y
c.118G>T
3 papers
NM_002970.4
p.E171K
c.511G>A
3 papers
NM_002970.4
p.E171Q
c.511G>C
2 papers
NM_002970.4
p.E48Q
c.142G>C
2 papers
NM_002970.4
p.K87R
c.260A>G
2 papers
NM_002970.4
p.G104D
c.311G>A
2 papers
NM_002970.4
p.R121C
c.361C>T
2 papers
NM_002970.4
p.R143S
c.429A>C
2 papers
NM_002970.4
p.R143S
c.429A>T
2 papers
NM_002970.4
p.G144D
c.431G>A
2 papers
NM_002970.4
p.E152Q
c.454G>C
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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."