Varaico: Literature-Extracted Genetic Variants

Gene:SAE1

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
1–12 of 104 variants
1 paper
NM_005500.3
p.E6G
c.17A>G
1 paper
NM_005500.3
p.G9S
c.25G>A
1 paper
NM_005500.3
p.E15A
c.44A>C
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
1 paper
NM_005500.3
p.R35W
c.103C>T
1 paper
NM_005500.3
p.R35Q
c.104G>A
1 paper
NM_005500.3
p.R38Q
c.113G>A
1 paper
NM_005500.3
p.V39M
c.115G>A
1 paper
NM_005500.3
p.G43S
c.127G>A
1 paper
NM_005500.3
p.K45E
c.133A>G
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