Varaico: Literature-Extracted Genetic Variants

Gene:SAT1
Variant:p.W64R

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.W64R
c.190T>C
Surrounding Variants
1 paper
NM_002970.4
p.W64R
c.190T>A
1 paper
NM_002970.4
p.H63N
c.187C>A
1 paper
NM_002970.4
p.E62G
c.185A>G
1 paper
NM_002970.4
p.E62Q
c.184G>C
1 paper
NM_002970.4
p.P66R
c.197C>G
1 paper
NM_002970.4
p.K61Q
c.181A>C
1 paper
NM_002970.4
p.E67Q
c.199G>C
1 paper
NM_002970.4
p.G68E
c.203G>A
1 paper
NM_002970.4
p.E58Q
c.172G>C
1 paper
NM_002970.4
p.A57T
c.169G>A
1 paper
NM_002970.4
p.C54S
c.161G>C
1 paper
NM_002970.4
p.C54S
c.160T>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."