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

2 papers

NM_005499.3

p.A12_E13delFs

c.34_37del4

Surrounding Variants

1 paper

NM_005499.3

p.A12insFs

c.34dupG

2 papers

NM_005499.3

p.A12fs

c.34_35fs

1 paper

NM_005499.3

p.A12V

c.35C>T

1 paper

NM_005499.3

p.L7fs

c.19_20fs

1 paper

NM_005499.3

p.G18_V20insFs

c.52_58dup7

1 paper

NM_005499.3

p.R5insFs

c.15dupG

1 paper

NM_005499.3

p.G6delFs

c.18delG

1 paper

NM_005499.3

p.S4W

c.11C>G

1 paper

NM_005499.3

p.A2insFs

c.6dupA

1 paper

NM_005499.3

p.G18V

c.53G>T

1 paper

NM_005499.3

p.M1T

c.2T>C

1 paper

NM_005499.3

p.M1insFs

c.2dupT