Varaico: Literature-Extracted Genetic Variants

Gene:SAT1
Variant:p.D40Y

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.D40Y
c.118G>T
Surrounding Variants
1 paper
NM_002970.4
p.K39N
c.117A>C
1 paper
NM_002970.4
p.K39N
c.117A>T
1 paper
NM_002970.4
p.I35M
c.105C>G
1 paper
NM_002970.4
p.I35V
c.103A>G
1 paper
NM_002970.4
p.Q33E
c.97C>G
1 paper
NM_002970.4
p.E32Q
c.94G>C
1 paper
NM_002970.4
p.E31Q
c.91G>C
1 paper
NM_002970.4
p.M30R
c.89T>G
1 paper
NM_002970.4
p.M30V
c.88A>G
1 paper
NM_002970.4
p.Y29H
c.85T>C
1 paper
NM_002970.4
p.Y29D
c.85T>G
1 paper
NM_002970.4
p.E28Q
c.82G>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."