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.V991A

c.2972T>C

Surrounding Variants

1 paper

NM_003335.3

p.L990S

c.2969T>C

1 paper

NM_003335.3

p.E1001K

c.3001G>A

1 paper

NM_003335.3

p.G957E

c.2870G>A

1 paper

NM_003335.3

p.A955V

c.2864C>T

2 papers

NM_003335.3

p.Y954H

c.2860T>C

1 paper

NM_003335.3

p.L946M

c.2836C>A

2 papers

NM_003335.3

p.R942K

c.2825G>A

1 paper

NM_003335.3

p.E925K

c.2773G>A

1 paper

NM_003335.3

p.G922A

c.2765G>C

1 paper

NM_003335.3

p.L917V

c.2749C>G

1 paper

NM_003335.3

p.M897T

c.2690T>C

1 paper

NM_003335.3

p.E890K

c.2668G>A