Varaico: Literature-Extracted Genetic Variants

Gene:UFL1
Variant:p.Q19R

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.Q19R
c.56A>G
Surrounding Variants
1 paper
NM_015323.5
p.Q19_Q25del0
c.55_75del21
1 paper
NM_015323.5
p.A18P
c.52G>C
1 paper
NM_015323.5
p.Q16Q
c.48G>A
1 paper
NM_015323.5
p.F15S
c.44T>C
1 paper
NM_015323.5
p.A23_T24insFs
c.69_70insG
1 paper
NM_015323.5
p.D14E
c.42C>A
1 paper
NM_015323.5
p.D14E
c.42C>G
1 paper
NM_015323.5
p.A13V
c.38C>T
1 paper
NM_015323.5
p.E7Q
c.19G>C
2 papers
NM_015323.5
p.M1insFs
c.2dupT
1 paper
NM_015323.5
p.S28F
c.83C>T
1 paper
NM_015323.5
p.E29Q
c.85G>C
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