Varaico: Literature-Extracted Genetic Variants

Gene:UFL1
Variant:p.S458R

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.S458R
c.1374T>A
Surrounding Variants
1 paper
NM_015323.5
p.S458R
c.1374T>G
1 paper
NM_015323.5
p.D459N
c.1375G>A
1 paper
NM_015323.5
p.D459H
c.1375G>C
1 paper
NM_015323.5
p.S458R
c.1372A>C
1 paper
NM_015323.5
p.E461K
c.1381G>A
1 paper
NM_015323.5
p.D456Y
c.1366G>T
1 paper
NM_015323.5
p.S462A
c.1384T>G
1 paper
NM_015323.5
p.D455H
c.1363G>C
1 paper
NM_015323.5
p.D455Y
c.1363G>T
1 paper
NM_015323.5
p.Q463*
c.1387C>T
1 paper
NM_015323.5
p.V448fs
c.1342_1343fs
2 papers
NM_015323.5
p.K446*
c.1336A>T
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