Varaico: Literature-Extracted Genetic Variants

Gene:UBAC1
Variant:p.F278L

UBAC1

39 papers

Pfam Domains

UBL_UBAC1aa 3–103UCSCUBAC1 UBL-like domain
UBA_7aa 193–239UCSCUBA-like domain
UBA_7aa 290–332UCSCUBA-like domain

Gene Aliases

HGNC Name

UBA domain containing 1

HGNC Previous Symbol

UBADC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016172.3
p.F278L
c.834C>A
Surrounding Variants
1 paper
NM_016172.3
p.F278L
c.834C>G
1 paper
NM_016172.3
p.F278L
c.832T>C
2 papers
NM_016172.3
p.E276K
c.826G>A
1 paper
NM_016172.3
p.R282W
c.844C>T
1 paper
NM_016172.3
p.R282L
c.845G>T
3 papers
NM_016172.3
p.E269_A270del2
c.805_809del6
4 papers
NM_016172.3
p.E269_A270del1
c.806_808delCCT
1 paper
NM_016172.3
p.R288P
c.863G>C
1 paper
NM_016172.3
p.E268D
c.804G>T
1 paper
NM_016172.3
p.E268D
c.804G>C
1 paper
NM_016172.3
p.P240L
c.719C>T
1 paper
NM_016172.3
p.P235L
c.704C>T
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