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.D616A

c.1847A>C

Surrounding Variants

1 paper

NM_018227.6

p.P631S

c.1891C>T

1 paper

NM_018227.6

p.H636H

c.1908T>C

1 paper

NM_018227.6

p.H651Y

c.1951C>T

1 paper

NM_018227.6

p.L655F

c.1965G>T

1 paper

NM_018227.6

p.L655F

c.1965G>C

2 papers

NM_018227.6

p.Y663C

c.1988A>G

1 paper

NM_018227.6

p.S613N

c.1838G>A

1 paper

NM_018227.6

p.P605L

c.1814C>T

1 paper

NM_018227.6

p.E601Q

c.1801G>C

1 paper

NM_018227.6

p.T596T

c.1788T>C

1 paper

NM_018227.6

p.L589S

c.1766T>C

1 paper

NM_018227.6

p.R580H

c.1739G>A