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.I398M

c.1194A>G

Surrounding Variants

1 paper

NM_005499.3

p.I387V

c.1159A>G

1 paper

NM_005499.3

p.Q412H

c.1236G>C

1 paper

NM_005499.3

p.Q412H

c.1236G>T

1 paper

NM_005499.3

p.I383fs

c.1147_1148fs

1 paper

NM_005499.3

p.I383V

c.1147A>G

1 paper

NM_005499.3

p.G381delFs

c.1141delG

1 paper

NM_005499.3

p.F374Y

c.1121T>A

1 paper

NM_005499.3

p.R373fs

c.1117_1118fs

3 papers

NM_005499.3

p.R373delFs

c.1118delG

2 papers

NM_005499.3

p.R373fs

c.1117_1118fs

1 paper

NM_005499.3

p.F366Y

c.1097T>A

1 paper

NM_005499.3

p.K346_D347Splc

c.1038+9T>C