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.L833L

c.2499A>G

Surrounding Variants

1 paper

NM_018227.6

p.P811L

c.2432C>T

1 paper

NM_018227.6

p.K851E

c.2551A>G

1 paper

NM_018227.6

p.R880H

c.2639G>A

1 paper

NM_018227.6

p.T896P

c.2686A>C

1 paper

NM_018227.6

p.V901I

c.2701G>A

1 paper

NM_018227.6

p.L904F

c.2712G>T

1 paper

NM_018227.6

p.L904F

c.2712G>C

1 paper

NM_018227.6

p.L904_V905Splc

c.2712+5G>A

1 paper

NM_018227.6

p.V934A

c.2801T>C

1 paper

NM_018227.6

p.R957L

c.2870G>T

1 paper

NM_018227.6

p.T984A

c.2950A>G

1 paper

NM_018227.6

p.V997I

c.2989G>A