Varaico: Literature-Extracted Genetic Variants

Gene:UFL1
Variant:p.L148H

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.L148H
c.443T>A
Surrounding Variants
1 paper
NM_015323.5
p.L148P
c.443T>C
1 paper
NM_015323.5
p.L148F
c.442C>T
1 paper
NM_015323.5
p.F152C
c.455T>G
1 paper
NM_015323.5
p.Q155_A156Splc
c.465+1G>A
1 paper
NM_015323.5
p.G135C
c.403G>T
1 paper
NM_015323.5
p.L131F
c.393G>C
1 paper
NM_015323.5
p.L131F
c.393G>T
1 paper
NM_015323.5
p.D129A
c.386A>C
1 paper
NM_015323.5
p.D129N
c.385G>A
1 paper
NM_015323.5
p.E126K
c.376G>A
1 paper
NM_015323.5
p.R122Q
c.365G>A
1 paper
NM_015323.5
p.D121H
c.361G>C
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