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.I214L

c.640A>C

Surrounding Variants

1 paper

NM_003335.3

p.D207N

c.619G>A

1 paper

NM_003335.3

p.Q157R

c.470A>G

1 paper

NM_003335.3

p.R246W

c.736C>T

1 paper

NM_003335.3

p.H264_K265Splc

c.793-2A>G

1 paper

NM_003335.3

p.A270T

c.808G>A

1 paper

NM_003335.3

p.V155V

c.465G>C

1 paper

NM_003335.3

p.V155M

c.463G>A

1 paper

NM_003335.3

p.A148A

c.444G>A

1 paper

NM_003335.3

p.A148V

c.443C>T

1 paper

NM_003335.3

p.C145Y

c.434G>A

1 paper

NM_003335.3

p.P66H

c.197C>A

1 paper

NM_003335.3

p.S58R

c.174C>G