Varaico: Literature-Extracted Genetic Variants

Gene:KLB
Variant:p.T192S

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.T192S
c.574A>T
Surrounding Variants
1 paper
NM_175737.4
p.N186K
c.558C>A
1 paper
NM_175737.4
p.N186K
c.558C>G
2 papers
NM_175737.4
p.A169T
c.505G>A
1 paper
NM_175737.4
p.A167P
c.499G>C
1 paper
NM_175737.4
p.A167S
c.499G>T
1 paper
NM_175737.4
p.V166A
c.497T>C
1 paper
NM_175737.4
p.D161N
c.481G>A
1 paper
NM_175737.4
p.D161fs
c.481_482fs
2 papers
NM_175737.4
p.D161fs
c.481_482fs
2 papers
NM_175737.4
p.F159insFs
c.477dupC
1 paper
NM_175737.4
p.F159Fs
c.477delinsTCFs
1 paper
NM_175737.4
p.I153V
c.457A>G
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