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.L333*

c.998T>G

Surrounding Variants

1 paper

NM_005499.3

p.L333*

c.998T>A

1 paper

NM_005499.3

p.L333delFs

c.998delT

1 paper

NM_005499.3

p.K336delFs

c.1007delA

1 paper

NM_005499.3

p.K336fs

c.1006_1007fs

1 paper

NM_005499.3

p.I343L

c.1027A>C

1 paper

NM_005499.3

p.I343L

c.1027A>T

1 paper

NM_005499.3

p.S323fs

c.967_968fs

1 paper

NM_005499.3

p.D345delFs

c.1033delG

1 paper

NM_005499.3

p.W344_D345insFs

c.1032_1033ins7

1 paper

NM_005499.3

p.L321P

c.962T>C

1 paper

NM_005499.3

p.S323delFs

c.967delT

1 paper

NM_005499.3

p.K346_D347Splc

c.1038+9T>C