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

7 papers

NM_005499.3

p.G24V

c.71G>T

Surrounding Variants

1 paper

NM_005499.3

p.A25T

c.73G>A

1 paper

NM_005499.3

p.V20fs

c.58_59fs

1 paper

NM_005499.3

p.C30S

c.88T>A

1 paper

NM_005499.3

p.C30S

c.89G>C

1 paper

NM_005499.3

p.G18V

c.53G>T

1 paper

NM_005499.3

p.G18_V20insFs

c.52_58dup7

1 paper

NM_005499.3

p.K34_V37del4

c.100_110del12

1 paper

NM_005499.3

p.A12V

c.35C>T

2 papers

NM_005499.3

p.A12fs

c.34_35fs

1 paper

NM_005499.3

p.A12insFs

c.34dupG

2 papers

NM_005499.3

p.A12_E13delFs

c.34_37del4

1 paper

NM_005499.3

p.S42delFs

c.124_125delTC