Varaico: Literature-Extracted Genetic Variants

Gene:KLB
Variant:p.T690S

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.T690S
c.2068A>T
Surrounding Variants
1 paper
NM_175737.4
p.T690S
c.2069C>G
1 paper
NM_175737.4
p.N692S
c.2075A>G
1 paper
NM_175737.4
p.G705R
c.2113G>C
1 paper
NM_175737.4
p.A722D
c.2165C>A
1 paper
NM_175737.4
p.R724R
c.2172C>G
14 papers
NM_175737.4
p.R728Q
c.2183G>A
1 paper
NM_175737.4
p.P732L
c.2195C>T
1 paper
NM_175737.4
p.T640fs
c.1918_1919fs
1 paper
NM_175737.4
p.V639_T640insFs
c.1917_1918insCG
1 paper
NM_175737.4
p.V639I
c.1915G>A
1 paper
NM_175737.4
p.M638fs
c.1912_1913fs
1 paper
NM_175737.4
p.A747V
c.2240C>T
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