Varaico: Literature-Extracted Genetic Variants

UBA7

90 papers

RefSeq Summary

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes...

Pfam Domains

ThiFaa 15–395UCSCThiF family

E1_FCCHaa 187–257UCSCUbiquitin-activating enzyme E1 FCCH domain

E1_4HBaa 258–327UCSCUbiquitin-activating enzyme E1 four-helix bundle

ThiFaa 415–906UCSCThiF family

UBA_E1_SCCHaa 605–843UCSCUbiquitin-activating enzyme, SCCH domain

E1_UFDaa 914–1008UCSCUbiquitin fold domain

Gene Aliases

HGNC Name

ubiquitin like modifier activating enzyme 7

HGNC Previous Symbol

UBE1L

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003335.3

p.S58R

c.172A>C

Surrounding Variants

1 paper

NM_003335.3

p.G57V

c.170G>T

1 paper

NM_003335.3

p.S58R

c.174C>G

1 paper

NM_003335.3

p.S58R

c.174C>A

1 paper

NM_003335.3

p.L53ins3

c.158_159ins9

1 paper

NM_003335.3

p.P66H

c.197C>A

1 paper

NM_003335.3

p.A48V

c.143C>T

1 paper

NM_003335.3

p.V47V

c.141G>A

1 paper

NM_003335.3

p.R29K

c.86G>A

1 paper

NM_003335.3

p.P25L

c.74C>T

1 paper

NM_003335.3

p.P25R

c.74C>G

1 paper

NM_003335.3

p.L22M

c.64C>A

1 paper

NM_003335.3

p.Q18L

c.53A>T