Varaico: Literature-Extracted Genetic Variants

Gene:UFL1
Variant:p.R535H

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.R535H
c.1604G>A
Surrounding Variants
1 paper
NM_015323.5
p.R535C
c.1603C>T
1 paper
NM_015323.5
p.I537V
c.1609A>G
1 paper
NM_015323.5
p.K538N
c.1614G>C
1 paper
NM_015323.5
p.K538N
c.1614G>T
2 papers
NM_015323.5
p.T531M
c.1592C>T
1 paper
NM_015323.5
p.E542K
c.1624G>A
1 paper
NM_015323.5
p.N546K
c.1638C>A
1 paper
NM_015323.5
p.N546K
c.1638C>G
1 paper
NM_015323.5
p.L547M
c.1639C>A
1 paper
NM_015323.5
p.N549H
c.1645A>C
1 paper
NM_015323.5
p.N549K
c.1647T>A
1 paper
NM_015323.5
p.N549K
c.1647T>G
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