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.H691D

c.2071C>G

Surrounding Variants

1 paper

NM_003335.3

p.C680fs

c.2038_2039fs

1 paper

NM_003335.3

p.C669F

c.2006G>T

1 paper

NM_003335.3

p.P663L

c.1988C>T

1 paper

NM_003335.3

p.K709fs

c.2125_2126fs

1 paper

NM_003335.3

p.K709fs

c.2125_2126fs

2 papers

NM_003335.3

p.K709_Q710delFs

c.2126_2129del4

2 papers

NM_003335.3

p.P712S

c.2134C>T

1 paper

NM_003335.3

p.T638fs

c.1912_1913fs

1 paper

NM_003335.3

p.Q635Splc

c.1904+3A>G

1 paper

NM_003335.3

p.L729Q

c.2186T>A

1 paper

NM_003335.3

p.A608S

c.1822G>T

1 paper

NM_003335.3

p.G563_T564insFs

c.1689_1690insG