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

2 papers

NM_018227.6

p.F299delFs

c.897delA

Surrounding Variants

1 paper

NM_018227.6

p.P294L

c.881C>T

1 paper

NM_018227.6

p.I287M

c.861A>G

1 paper

NM_018227.6

p.G286D

c.857G>A

1 paper

NM_018227.6

p.H284Y

c.850C>T

1 paper

NM_018227.6

p.E278K

c.832G>A

1 paper

NM_018227.6

p.D275V

c.824A>T

1 paper

NM_018227.6

p.F271fs

c.811_812fs

1 paper

NM_018227.6

p.E300*

c.898G>T

1 paper

NM_018227.6

p.P319L

c.956C>T

1 paper

NM_018227.6

p.E320K

c.958G>A

1 paper

NM_018227.6

p.A328A

c.984T>A

1 paper

NM_018227.6

p.Q334*

c.1000C>T