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.L511P

c.1532T>C

Surrounding Variants

1 paper

NM_018227.6

p.L506F

c.1518A>T

1 paper

NM_018227.6

p.L506F

c.1518A>C

1 paper

NM_018227.6

p.Q518R

c.1553A>G

1 paper

NM_018227.6

p.E502K

c.1504G>A

1 paper

NM_018227.6

p.A528V

c.1583C>T

1 paper

NM_018227.6

p.T529T

c.1587T>A

1 paper

NM_018227.6

p.L542L

c.1624C>T

1 paper

NM_018227.6

p.E550Q

c.1648G>C

1 paper

NM_018227.6

p.G491R

c.1471G>C

1 paper

NM_018227.6

p.G491R

c.1471G>A

1 paper

NM_018227.6

p.M475L

c.1423A>T

1 paper

NM_018227.6

p.M475L

c.1423A>C