Varaico: Literature-Extracted Genetic Variants

UBA6

80 papers

RefSeq Summary

Modification of proteins with ubiquitin (UBB; MIM 191339) or ubiquitin-like proteins controls many signaling networks and requires a ubiquitin-activating enzyme (E1), a ubiquitin conjugating enzyme (E...

Pfam Domains

ThiFaa 44–422UCSCThiF family

E1_FCCHaa 224–292UCSCUbiquitin-activating enzyme E1 FCCH domain

E1_4HBaa 293–362UCSCUbiquitin-activating enzyme E1 four-helix bundle

ThiFaa 443–947UCSCThiF family

UBA_E1_SCCHaa 631–884UCSCUbiquitin-activating enzyme, SCCH domain

E1_UFDaa 955–1043UCSCUbiquitin fold domain

Gene Aliases

HGNC Name

ubiquitin like modifier activating enzyme 6

HGNC Previous Symbol

UBE1L2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018227.6

p.A121V

c.362C>T

Surrounding Variants

1 paper

NM_018227.6

p.V122I

c.364G>A

1 paper

NM_018227.6

p.L123F

c.367C>T

1 paper

NM_018227.6

p.S138F

c.413C>T

1 paper

NM_018227.6

p.P141L

c.422C>T

1 paper

NM_018227.6

p.F142S

c.425T>C

1 paper

NM_018227.6

p.D147G

c.440A>G

1 paper

NM_018227.6

p.S149S

c.447C>G

1 paper

NM_018227.6

p.R116G

c.346A>G

1 paper

NM_018227.6

p.E109K

c.325G>A

1 paper

NM_018227.6

p.D100V

c.299A>T

1 paper

NM_018227.6

p.W99C

c.297G>T

1 paper

NM_018227.6

p.W99C

c.297G>C