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

1–12 of 80 variants

4 papers

NM_003335.3

p.E397*

c.1189G>T

3 papers

NM_003335.3

p.V509M

c.1525G>A

3 papers

NM_003335.3

p.R878C

c.2632C>T

2 papers

NM_003335.3

p.R414H

c.1241G>A

2 papers

NM_003335.3

p.D416G

c.1247A>G

2 papers

NM_003335.3

p.K709_Q710delFs

c.2126_2129del4

2 papers

NM_003335.3

p.P712S

c.2134C>T

2 papers

NM_003335.3

p.R942K

c.2825G>A

2 papers

NM_003335.3

p.Y954H

c.2860T>C

1 paper

NM_003335.3

p.K8fs

c.22_23fs

1 paper

NM_003335.3

p.D11G

c.32A>G

1 paper

NM_003335.3

p.Q18L

c.53A>T