Varaico: Literature-Extracted Genetic Variants

Gene:UFL1
Variant:p.I165T

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.I165T
c.494T>C
Surrounding Variants
1 paper
NM_015323.5
p.G167E
c.500G>A
1 paper
NM_015323.5
p.L161H
c.482T>A
1 paper
NM_015323.5
p.L161F
c.481C>T
1 paper
NM_015323.5
p.L171I
c.511C>A
1 paper
NM_015323.5
p.T179M
c.536C>T
1 paper
NM_015323.5
p.K187*
c.559A>T
1 paper
NM_015323.5
p.R189C
c.565C>T
1 paper
NM_015323.5
p.R199W
c.595C>T
2 papers
NM_015323.5
p.R199Q
c.596G>A
1 paper
NM_015323.5
p.Q155_A156Splc
c.465+1G>A
1 paper
NM_015323.5
p.F152C
c.455T>G
1 paper
NM_015323.5
p.L148H
c.443T>A
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