Varaico: Literature-Extracted Genetic Variants

Gene:UFL1
Variant:p.H627Y

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.H627Y
c.1879C>T
Surrounding Variants
1 paper
NM_015323.5
p.N628K
c.1884C>A
1 paper
NM_015323.5
p.N628K
c.1884C>G
1 paper
NM_015323.5
p.S629Y
c.1886C>A
1 paper
NM_015323.5
p.S616*
c.1847C>A
1 paper
NM_015323.5
p.S616*
c.1847C>G
1 paper
NM_015323.5
p.S616T
c.1846T>A
1 paper
NM_015323.5
p.K614R
c.1841A>G
1 paper
NM_015323.5
p.K609R
c.1826A>G
1 paper
NM_015323.5
p.R608T
c.1823G>C
1 paper
NM_015323.5
p.K633_S634Splc
c.1900-1G>A
1 paper
NM_015323.5
p.D637N
c.1909G>A
1 paper
NM_015323.5
p.S640C
c.1919C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."