Varaico: Literature-Extracted Genetic Variants

UBA2

131 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 (MIM 6132...

Pfam Domains

ThiFaa 3–443UCSCThiF family

UAE_UbLaa 452–539UCSCUbiquitin/SUMO-activating enzyme ubiquitin-like domain

UBA2_Caa 549–636UCSCSUMO-activating enzyme subunit 2 C-terminus

Gene Aliases

HGNC Name

ubiquitin like modifier activating enzyme 2

HGNC Previous Symbol

SAE2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005499.3

p.V450L

c.1348G>T

Surrounding Variants

1 paper

NM_005499.3

p.V452delFs

c.1355_1356delTG

1 paper

NM_005499.3

p.V452M

c.1354G>A

2 papers

NM_005499.3

p.V452fs

c.1354_1355fs

1 paper

NM_005499.3

p.R453W

c.1357C>T

1 paper

NM_005499.3

p.N455D

c.1363A>G

1 paper

NM_005499.3

p.N455S

c.1364A>G

1 paper

NM_005499.3

p.V443I

c.1327G>A

1 paper

NM_005499.3

p.V443L

c.1327G>C

1 paper

NM_005499.3

p.V443L

c.1327G>T

1 paper

NM_005499.3

p.Y442N

c.1324T>A

4 papers

NM_005499.3

p.Y442fs

c.1324_1325fs

4 papers

NM_005499.3

p.Y442insFs

c.1324dupT