Varaico: Literature-Extracted Genetic Variants

Gene:BKGD
Variant:p.V173L

BKGD

18 papers

Pfam Domains

DUF1907aa 20–303UCSCDomain of Unknown Function (DUF1907)

Gene Aliases

HGNC Name

beta-keto-L-gulonate decarboxylase

HGNC Previous Symbol

C11orf54

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001286069.2
p.V173L
c.517G>T
Surrounding Variants
1 paper
NM_001286069.2
p.V173L
c.517G>C
1 paper
NM_001286069.2
p.D151N
c.451G>A
1 paper
NM_001286069.2
p.E147*
c.439G>T
1 paper
NM_001286069.2
p.L141Q
c.422T>A
1 paper
NM_001286069.2
p.H132Y
c.394C>T
1 paper
NM_001286069.2
p.Y129D
c.385T>G
1 paper
NM_001286069.2
p.P227L
c.680C>T
1 paper
NM_001286069.2
p.E233D
c.699A>C
1 paper
NM_001286069.2
p.E233D
c.699A>T
1 paper
NM_001286069.2
p.V77fs
c.229_230fs
2 papers
NM_001286069.2
p.V77fs
c.229_230fs
1 paper
NM_001286069.2
p.Q74fs
c.220_221fs
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