Varaico: Literature-Extracted Genetic Variants

Gene:KLB
Variant:p.H112N

KLB

111 papers

Pfam Domains

Glyco_hydro_1aa 77–382UCSCGlycosyl hydrolase family 1
Glyco_hydro_1aa 377–508UCSCGlycosyl hydrolase family 1
Glyco_hydro_1aa 517–967UCSCGlycosyl hydrolase family 1

Gene Aliases

HGNC Name

klotho beta

HGNC Alias Names

b-Klotho; beta-klotho; betaKlotho

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_175737.4
p.H112N
c.334C>A
Surrounding Variants
2 papers
NM_175737.4
p.G106E
c.317G>A
1 paper
NM_175737.4
p.W100L
c.299G>T
1 paper
NM_175737.4
p.G98V
c.293G>T
1 paper
NM_175737.4
p.K136E
c.406A>G
1 paper
NM_175737.4
p.W87*
c.261G>A
1 paper
NM_175737.4
p.W87*
c.260G>A
1 paper
NM_175737.4
p.I153V
c.457A>G
1 paper
NM_175737.4
p.F159Fs
c.477delinsTCFs
1 paper
NM_175737.4
p.P65A
c.193C>G
2 papers
NM_175737.4
p.F159insFs
c.477dupC
1 paper
NM_175737.4
p.D161N
c.481G>A
1 paper
NM_175737.4
p.D161fs
c.481_482fs
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