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.A120Splc

c.359-154G>T

Surrounding Variants

1 paper

NM_005499.3

p.A120Splc

c.359-176G>T

1 paper

NM_005499.3

p.A120Splc

c.359-190C>A

1 paper

NM_005499.3

p.A120Splc

c.359-5T>C

1 paper

NM_005499.3

p.A120G

c.359C>G

2 papers

NM_005499.3

p.R122G

c.364C>G

3 papers

NM_005499.3

p.R122*

c.364C>T

1 paper

NM_005499.3

p.H124_V125del2

c.370_374del6

1 paper

NM_005499.3

p.A131T

c.391G>A

1 paper

NM_005499.3

p.P135S

c.403C>T

1 paper

NM_005499.3

p.I137T

c.410T>C

1 paper

NM_005499.3

p.T141K

c.422C>A

1 paper

NM_005499.3

p.T150A

c.448A>G