Varaico: Literature-Extracted Genetic Variants

Gene:UBFD1
Variant:p.E20K

UBFD1

15 papers

Pfam Domains

ubiquitinaa 86–157UCSCUbiquitin family
PH_UBFD1_Caa 192–304UCSCC-terminal PH-like domain in UBFD1

Gene Aliases

HGNC Name

ubiquitin family domain containing 1

HGNC Alias Symbols

FLJ42145; FLJ38870; UBPH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019116.3
p.E20K
c.58G>A
Surrounding Variants
1 paper
NM_019116.3
p.C33S
c.97T>A
1 paper
NM_019116.3
p.C33S
c.98G>C
1 paper
NM_019116.3
p.D64N
c.190G>A
1 paper
NM_019116.3
p.S72I
c.215G>T
1 paper
NM_019116.3
p.M1T
c.2T>C
1 paper
NM_019116.3
p.T106R
c.317C>G
1 paper
NM_019116.3
p.I117T
c.350T>C
1 paper
NM_019116.3
p.P122A
c.364C>G
1 paper
NM_019116.3
p.G131R
c.391G>A
1 paper
NM_019116.3
p.G131R
c.391G>C
1 paper
NM_019116.3
p.E177K
c.529G>A
1 paper
NM_019116.3
p.T215A
c.643A>G
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