Varaico: Literature-Extracted Genetic Variants

Gene:UFL1
Variant:p.R660delFs

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
2 papers
NM_015323.5
p.R660delFs
c.1978delA
Surrounding Variants
1 paper
NM_015323.5
p.D657E
c.1971C>A
1 paper
NM_015323.5
p.D657E
c.1971C>G
1 paper
NM_015323.5
p.R660fs
c.1978_1979fs
1 paper
NM_015323.5
p.R660fs
c.1978_1979fs
1 paper
NM_015323.5
p.R662K
c.1985G>A
1 paper
NM_015323.5
p.V653L
c.1957G>C
1 paper
NM_015323.5
p.V653L
c.1957G>T
1 paper
NM_015323.5
p.A646S
c.1936G>T
1 paper
NM_015323.5
p.S640C
c.1919C>G
1 paper
NM_015323.5
p.D637N
c.1909G>A
1 paper
NM_015323.5
p.K633_S634Splc
c.1900-1G>A
1 paper
NM_015323.5
p.S629Y
c.1886C>A
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