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.A120G

c.359C>G

Surrounding Variants

1 paper

NM_005499.3

p.D117A

c.350A>C

1 paper

NM_005499.3

p.D117N

c.349G>A

3 papers

NM_005499.3

p.F109fs

c.325_326fs

1 paper

NM_005499.3

p.Q108H

c.324G>C

1 paper

NM_005499.3

p.Q108H

c.324G>T

4 papers

NM_005499.3

p.F109delFs

c.327delT

1 paper

NM_005499.3

p.Q108E

c.322C>G

1 paper

NM_005499.3

p.R107Q

c.320G>A

1 paper

NM_005499.3

p.F105I

c.313T>A

1 paper

NM_005499.3

p.A120Splc

c.359-190C>A

1 paper

NM_005499.3

p.A120Splc

c.359-176G>T

1 paper

NM_005499.3

p.A120Splc

c.359-154G>T