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

4 papers

NM_005499.3

p.H93Q

c.279T>A

Surrounding Variants

1 paper

NM_005499.3

p.M97T

c.290T>C

1 paper

NM_005499.3

p.N98Splc

c.293+1G>A

2 papers

NM_005499.3

p.P85L

c.254C>T

1 paper

NM_005499.3

p.Q74Q

c.222G>A

1 paper

NM_005499.3

p.G69E

c.206G>A

1 paper

NM_005499.3

p.G69*

c.205G>T

1 paper

NM_005499.3

p.N58fs

c.172_173fs

1 paper

NM_005499.3

p.R59_Q60delFs

c.177_180del4

2 papers

NM_005499.3

p.N56T

c.167A>C

1 paper

NM_005499.3

p.D53Y

c.157G>T

1 paper

NM_005499.3

p.T51I

c.152C>T

2 papers

NM_005499.3

p.D50G

c.149A>G