Varaico: Literature-Extracted Genetic Variants

Gene:SAT1
Variant:p.E171K

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
3 papers
NM_002970.4
p.E171K
c.511G>A
Surrounding Variants
3 papers
NM_002970.4
p.E171Q
c.511G>C
2 papers
NM_002970.4
p.E170K
c.508G>A
2 papers
NM_002970.4
p.E170Q
c.508G>C
2 papers
NM_002970.4
p.T169A
c.505A>G
1 paper
NM_002970.4
p.K166I
c.497A>T
1 paper
NM_002970.4
p.D160N
c.478G>A
4 papers
NM_002970.4
p.E152K
c.454G>A
2 papers
NM_002970.4
p.E152Q
c.454G>C
1 paper
NM_002970.4
p.E151Q
c.451G>C
1 paper
NM_002970.4
p.S150R
c.450T>A
1 paper
NM_002970.4
p.D147V
c.440A>T
2 papers
NM_002970.4
p.G144D
c.431G>A
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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."