Varaico: Literature-Extracted Genetic Variants

Gene:SAE1
Variant:p.V60L

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.V60L
c.178G>C
Surrounding Variants
1 paper
NM_005500.3
p.V60M
c.178G>A
1 paper
NM_005500.3
p.V60L
c.178G>T
1 paper
NM_005500.3
p.A58G
c.173C>G
1 paper
NM_005500.3
p.L57V
c.169T>G
1 paper
NM_005500.3
p.I56S
c.167T>G
1 paper
NM_005500.3
p.L55L
c.165C>A
1 paper
NM_005500.3
p.D67N
c.199G>A
1 paper
NM_005500.3
p.D67G
c.200A>G
1 paper
NM_005500.3
p.A52D
c.155C>A
1 paper
NM_005500.3
p.E69K
c.205G>A
1 paper
NM_005500.3
p.A49D
c.146C>A
1 paper
NM_005500.3
p.L47V
c.139C>G
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