Varaico: Literature-Extracted Genetic Variants

Gene:UFL1
Variant:p.P710L

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.P710L
c.2129C>T
Surrounding Variants
1 paper
NM_015323.5
p.G706E
c.2117G>A
1 paper
NM_015323.5
p.G706*
c.2116G>T
3 papers
NM_015323.5
p.P705R
c.2114C>G
1 paper
NM_015323.5
p.N717I
c.2150A>T
1 paper
NM_015323.5
p.K719T
c.2156A>C
1 paper
NM_015323.5
p.Q695K
c.2083C>A
1 paper
NM_015323.5
p.L692P
c.2075T>C
1 paper
NM_015323.5
p.I685T
c.2054T>C
1 paper
NM_015323.5
p.D681Y
c.2041G>T
1 paper
NM_015323.5
p.E680K
c.2038G>A
1 paper
NM_015323.5
p.H668Y
c.2002C>T
1 paper
NM_015323.5
p.L665V
c.1993C>G
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