Varaico: Literature-Extracted Genetic Variants

Gene:SAT1
Variant:p.E131G

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.E131G
c.392A>G
Surrounding Variants
1 paper
NM_002970.4
p.F127C
c.380T>G
1 paper
NM_002970.4
p.M125T
c.374T>C
1 paper
NM_002970.4
p.N138T
c.413A>C
1 paper
NM_002970.4
p.S124G
c.370A>G
1 paper
NM_002970.4
p.S123G
c.367A>G
1 paper
NM_002970.4
p.Y140F
c.419A>T
1 paper
NM_002970.4
p.R121H
c.362G>A
1 paper
NM_002970.4
p.R121S
c.361C>A
2 papers
NM_002970.4
p.R121C
c.361C>T
1 paper
NM_002970.4
p.R119K
c.356G>A
2 papers
NM_002970.4
p.R143S
c.429A>C
2 papers
NM_002970.4
p.R143S
c.429A>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."