Varaico: Literature-Extracted Genetic Variants

Gene:SAE1
Variant:p.E15A

SAE1

47 papers

RefSeq Summary

Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 and UBA2 ...

Pfam Domains

ThiFaa 19–344UCSCThiF family

Gene Aliases

HGNC Name

SUMO1 activating enzyme subunit 1

HGNC Alias Symbols

AOS1; FLJ3091; Sua1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005500.3
p.E15A
c.44A>C
Surrounding Variants
1 paper
NM_005500.3
p.G9S
c.25G>A
1 paper
NM_005500.3
p.E6G
c.17A>G
1 paper
NM_005500.3
p.G27R
c.79G>A
1 paper
NM_005500.3
p.G27R
c.79G>C
1 paper
NM_005500.3
p.Q31*
c.91C>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."