Varaico: Literature-Extracted Genetic Variants

Gene:UFL1

UFL1

99 papers

Pfam Domains

E3_UFM1_ligaseaa 7–284UCSCE3 UFM1-protein ligase 1
WHD_UFL1_5thaa 302–361UCSCWinged helix-turn-helix domain 5 in UFL1 protein
UFL1aa 537–656UCSCE3 UFM1-protein ligase 1-like domain
UFL1_Caa 661–782UCSCE3 UFM1-protein ligase 1 C-terminal domain

Gene Aliases

HGNC Name

UFM1 specific ligase 1

HGNC Previous Symbol

KIAA0776

Papers
RefSeq ID
Protein change
DNA change
1–12 of 252 variants
3 papers
NM_015323.5
p.P705R
c.2114C>G
2 papers
NM_015323.5
p.M1insFs
c.2dupT
2 papers
NM_015323.5
p.R73Q
c.218G>A
2 papers
NM_015323.5
p.R199Q
c.596G>A
2 papers
NM_015323.5
p.K446*
c.1336A>T
2 papers
NM_015323.5
p.T531M
c.1592C>T
2 papers
NM_015323.5
p.R535H
c.1604G>A
2 papers
NM_015323.5
p.E555G
c.1664A>G
2 papers
NM_015323.5
p.R660delFs
c.1978delA
2 papers
NM_015323.5
p.Q663K
c.1987C>A
1 paper
NM_015323.5
p.E7Q
c.19G>C
1 paper
NM_015323.5
p.A13V
c.38C>T
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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."