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

1–12 of 213 variants

7 papers

NM_005499.3

p.G24V

c.71G>T

4 papers

NM_005499.3

p.H93Q

c.279T>A

4 papers

NM_005499.3

p.F109delFs

c.327delT

4 papers

NM_005499.3

p.Y442insFs

c.1324dupT

4 papers

NM_005499.3

p.Y442fs

c.1324_1325fs

3 papers

NM_005499.3

p.F109fs

c.325_326fs

3 papers

NM_005499.3

p.R122*

c.364C>T

3 papers

NM_005499.3

p.Q204delFs

c.612delA

3 papers

NM_005499.3

p.E205fs

c.613_614fs

3 papers

NM_005499.3

p.R373delFs

c.1118delG

2 papers

NM_005499.3

p.A12_E13delFs

c.34_37del4

2 papers

NM_005499.3

p.A12fs

c.34_35fs