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.A83E

c.248C>A

Surrounding Variants

1 paper

NM_018227.6

p.A83T

c.247G>A

2 papers

NM_018227.6

p.E75V

c.224A>T

1 paper

NM_018227.6

p.E75K

c.223G>A

1 paper

NM_018227.6

p.L72F

c.214C>T

1 paper

NM_018227.6

p.L66V

c.196T>G

1 paper

NM_018227.6

p.A60T

c.178G>A

1 paper

NM_018227.6

p.G52G

c.156A>T

1 paper

NM_018227.6

p.T89I

c.266C>T

1 paper

NM_018227.6

p.A98T

c.292G>A

1 paper

NM_018227.6

p.W99C

c.297G>T

1 paper

NM_018227.6

p.W99C

c.297G>C

1 paper

NM_018227.6

p.D100V

c.299A>T