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.H189R

c.566A>G

Surrounding Variants

1 paper

NM_018227.6

p.E204K

c.610G>A

1 paper

NM_018227.6

p.S219L

c.656C>T

2 papers

NM_018227.6

p.T222M

c.665C>T

3 papers

NM_018227.6

p.A224T

c.670G>A

2 papers

NM_018227.6

p.N225K

c.675T>G

2 papers

NM_018227.6

p.N225K

c.675T>A

1 paper

NM_018227.6

p.P226L

c.677C>T

1 paper

NM_018227.6

p.G258E

c.773G>A

1 paper

NM_018227.6

p.I181V

c.541A>G

1 paper

NM_018227.6

p.P179S

c.535C>T

1 paper

NM_018227.6

p.M162I

c.486G>T

1 paper

NM_018227.6

p.M162I

c.486G>C