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.H817R

c.2450A>G

Surrounding Variants

1 paper

NM_003335.3

p.R839P

c.2516G>C

1 paper

NM_003335.3

p.T855I

c.2564C>T

3 papers

NM_003335.3

p.R878C

c.2632C>T

1 paper

NM_003335.3

p.E890K

c.2668G>A

1 paper

NM_003335.3

p.K804N

c.2412G>T

1 paper

NM_003335.3

p.K804N

c.2412G>C

1 paper

NM_003335.3

p.M897T

c.2690T>C

1 paper

NM_003335.3

p.F782insFs

c.2344_2345insA

1 paper

NM_003335.3

p.F782V

c.2344T>G

1 paper

NM_003335.3

p.F782fs

c.2344_2345fs

1 paper

NM_003335.3

p.L729Q

c.2186T>A

2 papers

NM_003335.3

p.P712S

c.2134C>T