Varaico: Literature-Extracted Genetic Variants

Gene:UBA1

UBA1

654 papers

RefSeq Summary

The protein encoded by this gene catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation. This gene complements an X-linked mouse temperature-sensitive defect in DN...

Pfam Domains

ThiFaa 55–438UCSCThiF family
E1_FCCHaa 227–296UCSCUbiquitin-activating enzyme E1 FCCH domain
E1_4HBaa 297–366UCSCUbiquitin-activating enzyme E1 four-helix bundle
ThiFaa 451–950UCSCThiF family
UBA_E1_SCCHaa 638–884UCSCUbiquitin-activating enzyme, SCCH domain
E1_UFDaa 955–1053UCSCUbiquitin fold domain

Gene Aliases

HGNC Name

ubiquitin like modifier activating enzyme 1

HGNC Previous Symbols

A1S9T; GXP1; UBE1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 379 variants
183 papers
NM_003334.4
p.M41T
c.122T>C
165 papers
NM_003334.4
p.M41V
c.121A>G
149 papers
NM_003334.4
p.M41L
c.121A>C
141 papers
NM_003334.4
p.M41L
c.121A>T
58 papers
NM_003334.4
p.S56F
c.167C>T
55 papers
NM_003334.4
p.N39_G40Splc
c.118-1G>C
28 papers
NM_003334.4
p.S621C
c.1861A>T
21 papers
NM_003334.4
p.G477A
c.1430G>C
20 papers
NM_003334.4
p.A478S
c.1432G>T
17 papers
NM_003334.4
p.N39_G40Splc
c.118-2A>C
15 papers
NM_003334.4
p.D506G
c.1517A>G
14 papers
NM_003334.4
p.Y55H
c.163T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."