Varaico: Literature-Extracted Genetic Variants

Gene:SAT1
Variant:p.E48Q

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
2 papers
NM_002970.4
p.E48Q
c.142G>C
Surrounding Variants
1 paper
NM_002970.4
p.E48K
c.142G>A
1 paper
NM_002970.4
p.F46L
c.138T>A
1 paper
NM_002970.4
p.F46L
c.138T>G
1 paper
NM_002970.4
p.F46L
c.136T>C
1 paper
NM_002970.4
p.Y52H
c.154T>C
1 paper
NM_002970.4
p.E43Q
c.127G>C
1 paper
NM_002970.4
p.L42V
c.124C>G
1 paper
NM_002970.4
p.C54S
c.160T>A
1 paper
NM_002970.4
p.C54S
c.161G>C
1 paper
NM_002970.4
p.A57T
c.169G>A
1 paper
NM_002970.4
p.E58Q
c.172G>C
1 paper
NM_002970.4
p.K61Q
c.181A>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."