Varaico: Literature-Extracted Genetic Variants

Gene:UFL1
Variant:p.K54N

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
Selected Variant
1 paper
NM_015323.5
p.K54N
c.162G>T
Surrounding Variants
1 paper
NM_015323.5
p.K54N
c.162G>C
1 paper
NM_015323.5
p.T50A
c.148A>G
1 paper
NM_015323.5
p.A60T
c.178G>A
1 paper
NM_015323.5
p.H49N
c.145C>A
1 paper
NM_015323.5
p.S63G
c.187A>G
1 paper
NM_015323.5
p.L45R
c.134T>G
1 paper
NM_015323.5
p.A41P
c.121G>C
1 paper
NM_015323.5
p.E69_L70insG
c.205_209ins3
1 paper
NM_015323.5
p.L39M
c.115T>A
1 paper
NM_015323.5
p.K38T
c.113A>C
1 paper
NM_015323.5
p.H71Y
c.211C>T
2 papers
NM_015323.5
p.R73Q
c.218G>A
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