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

1–12 of 126 variants

3 papers

NM_018227.6

p.A224T

c.670G>A

2 papers

NM_018227.6

p.E75V

c.224A>T

2 papers

NM_018227.6

p.T222M

c.665C>T

2 papers

NM_018227.6

p.N225K

c.675T>G

2 papers

NM_018227.6

p.N225K

c.675T>A

2 papers

NM_018227.6

p.F299delFs

c.897delA

2 papers

NM_018227.6

p.V394A

c.1181T>C

2 papers

NM_018227.6

p.Y663C

c.1988A>G

1 paper

NM_018227.6

p.E5fs

c.13_14fs

1 paper

NM_018227.6

p.C17Y

c.50G>A

1 paper

NM_018227.6

p.S18F

c.53C>T

1 paper

NM_018227.6

p.S24Splc

c.71+135G>C