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

3 papers

NM_005499.3

p.Q204delFs

c.612delA

Surrounding Variants

1 paper

NM_005499.3

p.E205K

c.613G>A

3 papers

NM_005499.3

p.E205fs

c.613_614fs

1 paper

NM_005499.3

p.E200insFs

c.600dupA

1 paper

NM_005499.3

p.P208R

c.623C>G

1 paper

NM_005499.3

p.A215D

c.644C>A

1 paper

NM_005499.3

p.N194Splc

c.582-69A>G

1 paper

NM_005499.3

p.W217Splc

c.650-72C>A

1 paper

NM_005499.3

p.T220delFs

c.658delA

1 paper

NM_005499.3

p.E221_A222del1

c.662_664delAAG

1 paper

NM_005499.3

p.T247insFs

c.740_741ins5

1 paper

NM_005499.3

p.T247T

c.741T>C

1 paper

NM_005499.3

p.T247_G248ins2

c.741_742ins6